View transcript #00000006

Transcript name PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1
Gene name PMS2 (PMS1 homolog 2, mismatch repair system component)
Chromosome 7
Transcript - NCBI ID NM_000535.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000526.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

1282 entries on 13 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     
?/? 10 c.1004A>T - r.(?) p.(Asn335Ile) - -
?/? 1 c.11C>G - r.(?) p.(Ala4Gly) - -
?/? 11 c.1437C>G - r.(?) p.(His479Gln) Class 3 -
?/? 11 c.1450C>A - r.(?) p.(Pro484Thr) - -
?/? 11 c.1552G>A - r.(?) p.(Glu518Lys) - -
?/? 11 c.1981G>A - r.(?) p.(Glu661Lys) - -
?/? 12 c.2113G>A - r.(?) p.(Glu705Lys) Class 3 -
?/? 3 c.211_214del - r.(?) p.(Asn71Aspfs*4) - -
?/? 1 c.2T>A - r.(?) p.Met1? - -
?/? 1 c.2T>A - r.(?) p.Met1? - -
?/? 1 c.2T>A - r.(?) p.Met1? - -
?/? 5 c.475G>A - r.(?) p.(Val159Met) - -
?/-? 2 c.52A>G - r.(?) p.(Ile18Val) Class 2 -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
+/? 7 c.736_741del6ins11 - r.(?) p.Pro246Cysfs*3 - -
?/? 8 c.898G>C - r.(?) p.(Ala300Pro) - -
+/+ 1_15 c.(?_-87)_(*160_?)del del ex1_15 r.(?) p.? Class 5 -
?/+ 1_15 c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 -
?/+ 1_15 c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 -
?/+ 1_15 c.(?_-87)_(*160_?)del deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). r.(?) p.? Class 5 -
?/+ 1_15 c.(?_-87)_(*160_?)del Deletion of PMS2 r.(?) p.? Class 5 -
+/+ 1_15 c.(?_-87)_(*160_?)del del ex 1-15, dupPMS2CL r.(?) p.? Class 5 -
?/+ 1_15 c.(?_-87)_(*160_?)del PMS2 exon 1-15 del r.(?) p.? Class 5 -
?/+ ? c.(?_-87)_(*160_?)del MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del r.(?) p.? Class 5 -
+/+ 1_10 c.(?_-87)_1144+?del del ex01-10 r.(?) p.? Class 5 -
+/+ 1_10 c.(?_-87)_1144+?del ex01_ex10del r.(?) p.? Class 5 -
?/+ 1 c.(?_-87)_23+?del Deletion of Exon 1 r.(?) p.? Class 5 -
?/- 3'UTR c.*17G>C 1621G>A (E541K) r.(=) p.(=) Class 1 -
?/- 3'UTR c.*17G>C - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*17G>C - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*17G>C - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup 780G>C (S260S), 1621G>A (E541K) r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup 1621G>A (E541K) r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup - r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup 780G>C (Ser260Ser) r.(=) p.(=) Class 1 -
?/- 3'UTR c.*92dup - r.(=) p.(=) Class 1 -
?/+ 11_15 c.1145-1350_*20545del g.54564-54582_41826-41844del r.? p.? Class 5 -
?/? ? c.1145-?_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A -
?/? ? c.1145-?_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A -
?/? ? c.1145-?_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A -
?/? ? c.1145-?_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A -
?/? 11 c.1875A>Y Leu625Phe r.(?) p.(Leu625Phe) N/A -
+/+ 5_15 c.354-?_(*160_?)del del ex (3-)5-15 r.(?) p.? Class 5 -
+/? 6 c.538-?_705+? - r.? p? - -
?/+ 9_15 c.904-?_(*160_?)del - r.(?) p.? Class 5 -
?/+ 9_15 c.904-?_(*160_?)del - r.(?) p.? Class 5 -
?/+ 9_15 c.904-?_(*160_?)del - r.(?) p.? Class 5 -
?/+ 10_15 c.989-?_(*160_?)del - r.(?) p.? Class 5 -
+/? 11 ch7.hg19:g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - -
+/? 11 ch7.hg19:g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - -
?/- 5'UTR c.-2559T>A - r.(=) p.(=) Class 1 -
?/- 5'UTR c.-2146C>A - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-963A>G - r.(?) p.(=) Class 3 -
?/? 5'UTR c.-340G>T - r.(?) p.(=) Class 3 -
?/- 5'UTR c.-323G>T - r.(=) p.(=) Class 1 -
?/- 5'UTR c.-195T>C - r.(=) p.(=) Class 1 -
?/- 5'UTR c.-195T>C - r.(=) p.(=) Class 1 -
?/- 5'UTR c.-154C>G - r.(=) p.(=) Class 1 -
?/- 5'UTR c.-154C>G - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-120del - r.(?) p.(=) N/A -
?/? 5'UTR c.-101A>G - r.(?) p.(=) Class 3 -
-?/- 5'UTR c.-93G>A - r.(=) p.(=) Class 1 -
+/. 1_12 c.(?_-87)_2174+?del c.-87-?_2174+?del/Del exon 1-12 r.? p.? Not classified -
+/. 1_14 c.(?_-87)_2445+?del c.-87-?_2445+?del /Deletion af exon 1-14 r.? p.? Not classified -
?/. 3`UTR c.-77delC - r.? p.? - -
?/. 1 c.-53G>A c.-53G>A r.(=) p.(=) Not classified -
?/+? 1 c.1A>G c.1A>G r.? p.Met1Val Class 4 -
?/+? 1 c.1A>G - r.(?) p.? Class 4 -
?/+? 1 c.1A>G - r.(?) p.? Class 4 -
?/+? 1 c.1A>G - r.(?) p.? Class 4 -
?/+? 1 c.1A>G - r.(?) p.? Class 4 -
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 -
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 -
+/+? 1 c.1A>G - r.(?) p.? Class 4 -
+/? 1 c.1A>G - r.? p.? - -
-?/. 1i c.23+10G>C c.23+10G>C r.(=) p.(=) Not classified -
+/+ 2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 -
+/+ 2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 -
?/+ 2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 -
?/+ 2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 -
?/+ 2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 -
?/+ 2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 -
?/+ 2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 -
?/+ 2 c.24-12_107delinsAAAT PMS2:c.24-12_107delinsAAAT r.(?) p.? Class 5 -
+/? 1i_2 c.24-12_107delinsAAAT - r.? p.? - -
?/+ 2 c.24-?_163+?del Deletion of Exon 2 r.(?) p.(Ser8Argfs*5) Class 5 -
-/-? 2 c.52A>G c.52A>G r.(?) p.Ile18Val Class 2 -
-/-? 2 c.52A>G c.52A>G r.(?) p.Ile18Val Class 2 -
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