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.I222I

c.666T>A

Surrounding Variants

1 paper

NM_000251.3

p.I222I

c.666T>C

3 papers

NM_000251.3

p.L223_I224del2

c.667_671del6

1 paper

NM_000251.3

p.L223V

c.667C>G

2 papers

NM_000251.3

p.L223L

c.667C>T

1 paper

NM_000251.3

p.L223delFs

c.668delT

1 paper

NM_000251.3

p.I222_L223insC

c.664_668ins3

1 paper

NM_000251.3

p.I222insFs

c.665dupT

1 paper

NM_000251.3

p.I222delFs

c.665delT

2 papers

NM_000251.3

p.L223P

c.668T>C

3 papers

NM_000251.3

p.G221G

c.663A>C

1 paper

NM_000251.3

p.G221_L223Fs

c.663_667delinsTACFs

2 papers

NM_000251.3

p.L223L

c.669G>A