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.R159*

c.475A>T

Surrounding Variants

1 paper

NM_000251.3

p.R159fs

c.475_476fs

2 papers

NM_000251.3

p.R159fs

c.475_476fs

1 paper

NM_000251.3

p.R159K

c.476G>A

4 papers

NM_000251.3

p.R159insFs

c.475_476insA

2 papers

NM_000251.3

p.R159I

c.476G>T

3 papers

NM_000251.3

p.R159delFs

c.475delA

3 papers

NM_000251.3

p.Q160delFs

c.478_479delCA

1 paper

NM_000251.3

p.R159S

c.477A>C

1 paper

NM_000251.3

p.Q158R

c.473A>G

2 papers

NM_000251.3

p.R159S

c.477A>T

1 paper

NM_000251.3

p.Q158delFs

c.474delG

3 papers

NM_000251.3

p.Q160K

c.478C>A