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.V582insFs

c.1746dupC

Surrounding Variants

2 papers

NM_000251.3

p.V582A

c.1745T>C

1 paper

NM_000251.3

p.V582delFs

c.1746delC

2 papers

NM_000251.3

p.V582V

c.1746C>T

3 papers

NM_000251.3

p.N583delFs

c.1747_1748delAA

1 paper

NM_000251.3

p.V582fs

c.1744_1745fs

1 paper

NM_000251.3

p.V582delFs

c.1745delT

1 paper

NM_000251.3

p.V582fs

c.1744_1745fs

1 paper

NM_000251.3

p.V582_S586delFs

c.1745_1758del14

2 papers

NM_000251.3

p.N583fs

c.1747_1748fs

1 paper

NM_000251.3

p.N583delFs

c.1748_1749delAT

1 paper

NM_000251.3

p.N583fs

c.1747_1748fs

3 papers

NM_000251.3

p.V582delFs

c.1744delG