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

3 papers

NM_000251.3

p.V63A

c.188T>C

Surrounding Variants

7 papers

NM_000251.3

p.V63E

c.188T>A

1 paper

NM_000251.3

p.V63G

c.188T>G

1 paper

NM_000251.3

p.V63insFs

c.189dupG

4 papers

NM_000251.3

p.V63M

c.187G>A

1 paper

NM_000251.3

p.V63L

c.187G>C

2 papers

NM_000251.3

p.I64insFs

c.190_191insA

6 papers

NM_000251.3

p.V63fs

c.187_188fs

2 papers

NM_000251.3

p.V63L

c.187G>T

1 paper

NM_000251.3

p.V63V

c.189G>T

1 paper

NM_000251.3

p.I64delFs

c.190delA

1 paper

NM_000251.3

p.I64delFs

c.190_191delAT

1 paper

NM_000251.3

p.I64_K65delFs

c.190_193del4