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

1 paper

NM_000251.3

p.G713delFs

c.2137delG

Surrounding Variants

1 paper

NM_000251.3

p.V712_G713insFs

c.2136_2137insG

1 paper

NM_000251.3

p.V712_G713insFs

c.2136_2137insT

2 papers

NM_000251.3

p.G713fs

c.2137_2138fs

2 papers

NM_000251.3

p.G713delins

c.2137_2138delinsTT

4 papers

NM_000251.3

p.G713fs

c.2137_2138fs

1 paper

NM_000251.3

p.V712delFs

c.2136delA

1 paper

NM_000251.3

p.V712I

c.2134G>A

1 paper

NM_000251.3

p.V712L

c.2134G>C

1 paper

NM_000251.3

p.V712fs

c.2134_2135fs

10 papers

NM_000251.3

p.V712insFs

c.2135_2136insT

1 paper

NM_000251.3

p.V712fs

c.2134_2135fs

5 papers

NM_000251.3

p.G713G

c.2139G>C