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

9 papers

NM_000251.3

p.H639R

c.1916A>G

Surrounding Variants

5 papers

NM_000251.3

p.H639L

c.1916A>T

2 papers

NM_000251.3

p.H639N

c.1915C>A

1 paper

NM_000251.3

p.H639insFs

c.1916dupA

1 paper

NM_000251.3

p.H639fs

c.1915_1916fs

34 papers

NM_000251.3

p.H639Y

c.1915C>T

4 papers

NM_000251.3

p.H639fs

c.1915_1916fs

5 papers

NM_000251.3

p.H639Q

c.1917T>A

4 papers

NM_000251.3

p.H639Q

c.1917T>G

2 papers

NM_000251.3

p.A640T

c.1918G>A

1 paper

NM_000251.3

p.R638S

c.1914G>C

3 papers

NM_000251.3

p.A640S

c.1918G>T

1 paper

NM_000251.3

p.R638S

c.1914G>T