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.G587D

c.1760G>A

Surrounding Variants

7 papers

NM_000251.3

p.G587fs

c.1759_1760fs

1 paper

NM_000251.3

p.Y588insFs

c.1762_1763insT

5 papers

NM_000251.3

p.G587G

c.1761C>G

1 paper

NM_000251.3

p.Y588delFs

c.1763_1764delAT

5 papers

NM_000251.3

p.G587Splc

c.1760-1G>A

1 paper

NM_000251.3

p.G587Splc

c.1760-1G>T

4 papers

NM_000251.3

p.G587Splc

c.1760-2A>G

8 papers

NM_000251.3

p.G587delFs

c.1760delG

2 papers

NM_000251.3

p.Y588fs

c.1762_1763fs

1 paper

NM_000251.3

p.Y588C

c.1763A>G

2 papers

NM_000251.3

p.Y588delFs

c.1764delT

2 papers

NM_000251.3

p.G587Splc

c.1760-3C>G