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.D654N

c.1960G>A

Surrounding Variants

1 paper

NM_000251.3

p.D654H

c.1960G>C

2 papers

NM_000251.3

p.N653K

c.1959T>A

1 paper

NM_000251.3

p.N653S

c.1958A>G

2 papers

NM_000251.3

p.N653delFs

c.1959delT

1 paper

NM_000251.3

p.D654D

c.1962C>T

3 papers

NM_000251.3

p.V655delFs

c.1963_1964delGT

3 papers

NM_000251.3

p.N653fs

c.1957_1958fs

1 paper

NM_000251.3

p.N653H

c.1957A>C

1 paper

NM_000251.3

p.N653fs

c.1957_1958fs

14 papers

NM_000251.3

p.V655I

c.1963G>A

3 papers

NM_000251.3

p.V655fs

c.1963_1964fs

4 papers

NM_000251.3

p.V655delFs

c.1964delT