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.K675*

c.2023A>T

Surrounding Variants

6 papers

NM_000251.3

p.K675E

c.2023A>G

1 paper

NM_000251.3

p.K675T

c.2024A>C

5 papers

NM_000251.3

p.K675R

c.2024A>G

21 papers

NM_000251.3

p.G674D

c.2021G>A

34 papers

NM_000251.3

p.G674A

c.2021G>C

1 paper

NM_000251.3

p.G674V

c.2021G>T

20 papers

NM_000251.3

p.G674S

c.2020G>A

11 papers

NM_000251.3

p.G674R

c.2020G>C

2 papers

NM_000251.3

p.G674fs

c.2020_2021fs

4 papers

NM_000251.3

p.G674delFs

c.2021_2022delGT

2 papers

NM_000251.3

p.G674fs

c.2020_2021fs

7 papers

NM_000251.3

p.S676P

c.2026T>C