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.C333G

c.997T>G

Surrounding Variants

2 papers

NM_000251.3

p.C333S

c.997T>A

17 papers

NM_000251.3

p.C333R

c.997T>C

42 papers

NM_000251.3

p.C333Y

c.998G>A

1 paper

NM_000251.3

p.K332K

c.996G>A

2 papers

NM_000251.3

p.C333S

c.998G>C

1 paper

NM_000251.3

p.C333insFs

c.999dupT

2 papers

NM_000251.3

p.C333F

c.998G>T

1 paper

NM_000251.3

p.C333delFs

c.999delT

1 paper

NM_000251.3

p.C333_K334delFs

c.997_1000del4

1 paper

NM_000251.3

p.K332M

c.995A>T

1 paper

NM_000251.3

p.C333*

c.999T>A

3 papers

NM_000251.3

p.C333W

c.999T>G