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

2 papers

NM_000251.3

p.I217fs

c.649_650fs

Surrounding Variants

3 papers

NM_000251.3

p.I217insFs

c.651dupT

1 paper

NM_000251.3

p.I217V

c.649A>G

2 papers

NM_000251.3

p.I217F

c.649A>T

5 papers

NM_000251.3

p.I217fs

c.649_650fs

1 paper

NM_000251.3

p.I216I

c.648A>T

3 papers

NM_000251.3

p.I217del1

c.649_650delATT

1 paper

NM_000251.3

p.I217_I224del0

c.651_671del21

1 paper

NM_000251.3

p.I217T

c.650T>C

1 paper

NM_000251.3

p.I217_R219delFs

c.651_655del5

1 paper

NM_000251.3

p.I216T

c.647T>C

1 paper

NM_000251.3

p.I217M

c.651T>G

2 papers

NM_000251.3

p.I217insFs

c.649dupA