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

12 papers

NM_000251.3

p.K229_A230del2

c.685_689del6

Surrounding Variants

1 paper

NM_000251.3

p.K229fs

c.685_686fs

4 papers

NM_000251.3

p.K229*

c.685A>T

1 paper

NM_000251.3

p.K229fs

c.685_686fs

1 paper

NM_000251.3

p.K229T

c.686A>C

3 papers

NM_000251.3

p.K228E

c.682A>G

1 paper

NM_000251.3

p.K229I

c.686A>T

3 papers

NM_000251.3

p.K229_A230insFs

c.687_688insT

1 paper

NM_000251.3

p.R227S

c.681A>C

14 papers

NM_000251.3

p.R227S

c.681A>T

1 paper

NM_000251.3

p.A230delFs

c.688delG

1 paper

NM_000251.3

p.A230T

c.688G>A

2 papers

NM_000251.3

p.A230P

c.688G>C