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

2 papers

NM_000251.3

p.K197E

c.589A>G

Surrounding Variants

1 paper

NM_001258281.1

p.K131_E132insG

c.391_395ins3

1 paper

NM_000251.3

p.K197fs

c.589_590fs

6 papers

NM_000251.3

p.E198insFs

c.592dupG

1 paper

NM_000251.3

p.K197T

c.590A>C

1 paper

NM_000251.3

p.K197R

c.590A>G

2 papers

NM_000251.3

p.P196P

c.588A>T

1 paper

NM_000251.3

p.E198delFs

c.592delG

1 paper

NM_000251.3

p.E198_L213del16

c.592_638del48

3 papers

NM_000251.3

p.P196Q

c.587C>A

1 paper

NM_000251.3

p.P196insFs

c.588dupA

1 paper

NM_000251.3

p.P196L

c.587C>T

1 paper

NM_000251.3

p.P196delFs

c.588delA