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.E7Q

c.19G>C

Surrounding Variants

3 papers

NM_000251.3

p.E7K

c.19G>A

2 papers

NM_000251.3

p.E7insFs

c.20dupA

3 papers

NM_000251.3

p.E7fs

c.19_20fs

3 papers

NM_000251.3

p.E7*

c.19G>T

6 papers

NM_000251.3

p.E7delFs

c.20delA

1 paper

NM_000251.3

p.E7fs

c.19_20fs

4 papers

NM_000251.3

p.E7insFs

c.21dupG

1 paper

NM_000251.3

p.E7insFs

c.20_21ins20

1 paper

NM_000251.3

p.E7A

c.20A>C

3 papers

NM_000251.3

p.E7G

c.20A>G

2 papers

NM_000251.3

p.E7V

c.20A>T

2 papers

NM_000251.3

p.K6K

c.18G>A