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

8 papers

NM_000251.3

p.K627N

c.1881A>C

Surrounding Variants

5 papers

NM_000251.3

p.K627N

c.1881A>T

2 papers

NM_000251.3

p.G628delFs

c.1883delG

1 paper

NM_000251.3

p.G628R

c.1882G>A

1 paper

NM_000251.3

p.G628R

c.1882G>C

1 paper

NM_000251.3

p.G628fs

c.1882_1883fs

3 papers

NM_000251.3

p.G628*

c.1882G>T

2 papers

NM_000251.3

p.G628fs

c.1882_1883fs

1 paper

NM_000251.3

p.G628_G630delFs

c.1884_1888del5

1 paper

NM_000251.3

p.K627_G628delFs

c.1880_1883del4

2 papers

NM_000251.3

p.G628_Q629del2

c.1882_1886del6

1 paper

NM_000251.3

p.G628E

c.1883G>A

2 papers

NM_000251.3

p.G628V

c.1883G>T