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.G220*

c.658G>T

Surrounding Variants

1 paper

NM_000251.3

p.G220R

c.658G>A

1 paper

NM_000251.3

p.G220R

c.658G>C

1 paper

NM_000251.3

p.G220fs

c.658_659fs

1 paper

NM_000251.3

p.R219S

c.657A>C

1 paper

NM_000251.3

p.R219S

c.657A>T

1 paper

NM_000251.3

p.G220delFs

c.658_659delGG

1 paper

NM_000251.3

p.G220E

c.659G>A

1 paper

NM_000251.3

p.G220A

c.659G>C

2 papers

NM_000251.3

p.G220G

c.660A>C

2 papers

NM_000251.3

p.R219K

c.656G>A

1 paper

NM_000251.3

p.R219T

c.656G>C

1 paper

NM_000251.3

p.R219delFs

c.657delA