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.E590delFs

c.1768delG

Surrounding Variants

3 papers

NM_000251.3

p.E590fs

c.1768_1769fs

2 papers

NM_000251.3

p.E590delFs

c.1770delA

1 paper

NM_000251.3

p.E590fs

c.1768_1769fs

3 papers

NM_000251.3

p.V589delFs

c.1767delA

1 paper

NM_000251.3

p.E590_P591Fs

c.1770_1772delinsCFs

2 papers

NM_000251.3

p.V589I

c.1765G>A

1 paper

NM_000251.3

p.V589fs

c.1765_1766fs

1 paper

NM_000251.3

p.P591delFs

c.1772delC

8 papers

NM_000251.3

p.Y588*

c.1764T>A

8 papers

NM_000251.3

p.Y588*

c.1764T>G

1 paper

NM_000251.3

p.V589delFs

c.1765delG

1 paper

NM_000251.3

p.Y588C

c.1763A>G