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.Q409H

c.1227G>C

Surrounding Variants

1 paper

NM_000251.3

p.Q409H

c.1227G>T

3 papers

NM_000251.3

p.G410_G426del0

c.1229_1276del48

1 paper

NM_000251.3

p.Q409_G410insFs

c.1227_1228dupGG

1 paper

NM_000251.3

p.Q409R

c.1226A>G

3 papers

NM_000251.3

p.G410delFs

c.1229delG

2 papers

NM_000251.3

p.G410S

c.1228G>A

1 paper

NM_000251.3

p.G410R

c.1228G>C

2 papers

NM_000251.3

p.G410fs

c.1228_1229fs

4 papers

NM_000251.3

p.G410C

c.1228G>T

1 paper

NM_000251.3

p.G410fs

c.1228_1229fs

1 paper

NM_000251.3

p.G410_G426delFs

c.1230_1276del47

5 papers

NM_000251.3

p.Q409K

c.1225C>A