Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000251.3

p.S586delFs

c.1757delC

Surrounding Variants

3 papers

NM_000251.3

p.S586insFs

c.1757_1758insC

5 papers

NM_000251.3

p.S586*

c.1757C>A

1 paper

NM_000251.3

p.S586insFs

c.1758dupA

5 papers

NM_000251.3

p.S586*

c.1757C>G

1 paper

NM_000251.3

p.S586delFs

c.1758delA

3 papers

NM_000251.3

p.S585F

c.1754C>T

5 papers

NM_000251.3

p.G587S

c.1759G>A

32 papers

NM_000251.3

p.G587R

c.1759G>C

6 papers

NM_000251.3

p.G587C

c.1759G>T

1 paper

NM_000251.3

p.S585fs

c.1753_1754fs

3 papers

NM_000251.3

p.S585fs

c.1753_1754fs

1 paper

NM_000251.3

p.S585_S586delFs

c.1754_1757del4