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.G208*

c.622G>T

Surrounding Variants

2 papers

NM_000251.3

p.G208A

c.623G>C

1 paper

NM_000251.3

p.G208_D209ins0

c.622_627dup6

1 paper

NM_000251.3

p.D209insFs

c.625_626insG

1 paper

NM_000251.3

p.D209_Q215del7

c.625_644del21

1 paper

NM_000251.3

p.A207V

c.620C>T

2 papers

NM_000251.3

p.A207T

c.619G>A

2 papers

NM_000251.3

p.A207P

c.619G>C

1 paper

NM_000251.3

p.D209fs

c.625_626fs

7 papers

NM_000251.3

p.A207S

c.619G>T

2 papers

NM_000251.3

p.D209delFs

c.626delA

1 paper

NM_000251.3

p.D209G

c.626A>G

1 paper

NM_000251.3

p.T206T

c.618T>C