View transcript #00000008

Transcript name mutL homolog 3 (E. coli), transcript variant 1
Gene name MLH3 (mutL homolog 3)
Chromosome 14
Transcript - NCBI ID NM_001040108.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001035197.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

283 entries on 3 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     
?/? 2 c.1168T>A - r.(?) p.Phe390Ile - -
+/? 2 c.1234A>G - r.(?) p.Lys412Glu - -
?/-? 2 c.1234A>G exon01; A1234G r.(?) p.Lys412Glu - -
?/? 2 c.1234A>G - r.(?) p.Lys412Glu - -
-/? 2 c.1258G>A - r.(?) p.Val420Ile - -
-/? 2 c.1258G>A - r.(?) p.Val420Ile - -
-/? 2 c.1258G>A - r.(?) p.Val420Ile - -
?/? 2 c.1258G>A - r.(?) p.Val420Ile - -
?/? 8 c.1288_1289insC - r.(?) p.Thr431Tyrfs*7 - -
?/? 2 c.1474C>G - r.(?) p.Leu492Val - -
+/? 2 c.1496A>G - r.(?) p.Asn499Ser - -
-?/? 2 c.1496A>G - r.(?) p.Asn499Ser - -
?/? 2 c.1637G>T - r.(?) p.Arg546Ile - -
?/? 2 c.1713_1714insG - r.(?) p.Trp572ValfsX5 - -
?/? 2 c.1745_1746insA - r.(?) p.Lys583Glufs*6 - -
-?/? 2 c.1754_1755del A7 r.(?) p.Lys585fs - -
-?/? 2 c.1755dupA A10 r.(?) p.Lys585fs - -
?/? 2 c.1799G>A - r.(?) p.Arg600Gln - -
?/? 2 c.1816A>C - r.(?) p.Thr606Pro - -
?/? 2 c.1825A>C - r.(?) p.Ile609Leu - -
+/? 2 c.1870G>C G->C at 1870 r.(?) p.Glu624Gln - -
+/? 2 c.1870G>C G->C at 1870 r.(?) p.Glu624Gln - -
-?/? 2 c.1870G>C - r.(?) p.Glu624Gln - -
+/? 2 c.1901_1902del 1901-1902delTG r.(?) p.Leu634X - -
+/? 2 c.1939C>T C->T at 1939 r.(?) p.Arg647Cys - -
-/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
-/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
-/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
+?/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
-/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
?/? 2 c.1939C>T - r.(?) p.Arg647Cys - -
?/? 2 c.1940G>A - r.(?) p.Arg647His - -
?/? 2 c.2159A>G - r.(?) p.Tyr720Cys - -
?/? 2 c.2167G>A - r.(?) p.Val723Ile - -
+?/? 2 c.2173A>C exon01; A2173C r.(?) p.Asn725His - -
?/? 2 c.220C>T 344T>C (Phe74Leu) r.(?) p.(Phe74Leu) - -
+/? 2 c.2221G>T G>T at 2221 r.(?) p.Val741Phe - -
-/? 2 c.2221G>T - r.(?) p.Val741Phe - -
?/-? 2 c.2221G>T exon01; G2221T r.(?) p.Val741Phe - -
?/? 2 c.2221G>T - r.(?) p.Val741Phe - -
-?/? 2 c.2355A>G - r.(?) p.(=) - -
?/? 2 c.2355A>G - r.(?) p.Gln785Gln - -
?/? 2 c.2390G>A - r.(?) p.Arg797His - -
?/? 2 c.2425A>G - r.(?) p.Met809Val - -
+/? 2 c.2449A>G - r.(?) p.Ser817Gly - -
-/? 2 c.2449A>G - r.(?) p.Ser817Gly - -
-/? 2 c.2449A>G - r.(?) p.Ser817Gly - -
-/? 2 c.2449A>G - r.(?) p.Ser817Gly - -
+?/? 2 c.2449A>G - r.(?) p.Ser817Gly - -
?/? 2 c.2476A>G - r.(?) p.Asn826Asp - -
-?/? 2 c.2482G>T 2483G>T r.(?) p.Glu828X - -
-/? 2 c.2531C>T C>T at 2531 r.(?) p.Pro844Leu - -
-/? 2 c.2531C>T - r.(?) p.Pro844Leu - -
-?/-? 2 c.2531C>T exon01; C2531T; Pro8441Leu r.(?) p.Pro844Leu - -
?/? 2 c.2531C>T - r.(?) p.Pro844Leu - -
?/? 2 c.2533A>G - r.(?) p.Ser845Gly - -
+/? 2 c.2578delA del A at 2578 r.(?) p.fsX - -
?/? 2 c.2650G>A - r.(?) p.Glu884Lys - -
?/? 2 c.277C>G - r.(?) p.Arg93Gly - -
+/? 2 c.2797G>T G>T at 2797 r.(?) p.Gly933Cys - -
-/? 2 c.2797G>T - r.(?) p.Gly933Cys - -
-/? 2 c.2797G>T - r.(?) p.Gly933Cys - -
-/? 2 c.2797G>T - r.(?) p.Gly933Cys - -
+?/? 2 c.2797G>T - r.(?) p.Gly933Cys - -
+?/-? 2 c.2825C>T exon01; C2825T; Thr9421Ile r.(?) p.Thr942Ile - -
?/? 2 c.2825C>T - r.(?) p.Thr942Ile - -
?/? 2 c.2838C>A C>A at 2838 r.(?) p.(=) - -
-?/-? 2 c.2838C>A exon01; C2838A; Ser947Ser r.(?) p.Ser946Ser - -
?/-? 2 c.2896T>C exon01; T2896C r.(?) p.Ser966Pro - -
?/? 2 c.2896T>C - r.(?) p.Ser966Pro - -
+/? 2 c.2911G>A G>A at 2911 r.(?) p.Val971Ile - -
-/? 2 c.2911G>A - r.(?) p.Val971Ile - -
?/? 2 c.2911G>A - r.(?) p.Val971Ile - -
+/? 2 c.2941G>A G->A at 2941 r.(?) p.Gly981Ser - -
+/? 2 c.3020A>G - r.(?) p.Asn1007Ser - -
?/? 2 c.3197C>T - r.(?) p.Thr1066Ile - -
?/? 2 c.3217G>A - r.(?) p.Asp1073Asn - -
?/? 3 c.3315C>A - r.(?) p.Asp1105Glu - -
?/? 3 c.3344G>A - r.(?) p.Arg1115Gln - -
-/? 04i c.3465+37delT IVS+37delT r.(=) p.? - -
?/? 5 c.3488G>A - r.(?) p.Gly1163Asp - -
?/? 2 c.359T>C - r.(?) p.Phe120Ser - -
+?/? 2 c.359T>C - r.(?) p.Phe120Ser - -
?/? 8 c.3786G>A - r.(?) p.Pro1262Pro - -
+/? 7 c.3826T>C T>C at 3826 r.(?) p.Trp1276Arg - -
-/? 8 c.3826T>C - r.(?) p.Trp1276Arg - -
-/? 8 c.3826T>C - r.(?) p.Trp1276Arg - -
-/? 8 c.3826T>C - r.(?) p.Trp1276Arg - -
+?/? 8 c.3826T>C - r.(?) p.Trp1276Arg - -
+?/? 8 c.3826T>C - r.(?) p.Trp1276Arg - -
+?/? 8 c.3826T>C exon07; T3826C r.(?) p.Trp1276Arg - -
?/? 9 c.3867_3868insT - r.(?) p.Val1290Cysfs*6 - -
?/? 9 c.3909delA - r.(?) p.Val1304Tyrfs*20 - -
-/? 08i c.3987+66A>G IVS8+66A>G r.(=) p.? - -
-/? 08i c.3987+66A>G IVS8+66A>G r.(=) p.(=) - -
-/? 08i c.3987+66A>G IVS8+66A>G r.(=) p.(=) - -
-/? 08i c.3987+66A>G IVS8+66A>G r.(=) p.(=) - -
-/? 08i c.3987+66A>G IVS8+66A>G r.(=) p.(=) - -
?/? 11 c.4027G>A - r.(?) p.Gly1343Arg - -
?/? 2 c.408T>C - r.(?) p.Asp136Asp - -
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