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.Y656F

c.1967A>T

Surrounding Variants

2 papers

NM_000251.3

p.Y656C

c.1967A>G

2 papers

NM_000251.3

p.Y656delFs

c.1968delC

8 papers

NM_000251.3

p.Y656*

c.1968C>A

1 paper

NM_000251.3

p.F657insFs

c.1970dupT

11 papers

NM_000251.3

p.Y656*

c.1968C>G

2 papers

NM_000251.3

p.Y656_F657delins

c.1968_1969delinsAC

1 paper

NM_000251.3

p.F657delFs

c.1971delT

2 papers

NM_000251.3

p.F657_K661del5

c.1969_1982del15

2 papers

NM_000251.3

p.Y656H

c.1966T>C

8 papers

NM_000251.3

p.Y656_F657insFs

c.1967_1970dup4

2 papers

NM_000251.3

p.F657L

c.1969T>C

2 papers

NM_000251.3

p.F657fs

c.1969_1970fs