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.G587Splc

c.1759+3A>T

Surrounding Variants

4 papers

NM_000251.3

p.G587Splc

c.1759+3A>G

7 papers

NM_000251.3

p.G587Splc

c.1759+2T>A

4 papers

NM_000251.3

p.G587Splc

c.1759+2T>C

1 paper

NM_000251.3

p.G587Splc

c.1759+2T>G

12 papers

NM_000251.3

p.G587Splc

c.1759+1G>A

2 papers

NM_000251.3

p.G587Splc

c.1759+1G>C

4 papers

NM_000251.3

p.G587Splc

c.1759+1G>T

5 papers

NM_000251.3

p.G587S

c.1759G>A

32 papers

NM_000251.3

p.G587R

c.1759G>C

6 papers

NM_000251.3

p.G587C

c.1759G>T

5 papers

NM_000251.3

p.S586*

c.1757C>A

1 paper

NM_000251.3

p.S586insFs

c.1758dupA