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.E643delFs

c.1927delG

Surrounding Variants

2 papers

NM_000251.3

p.E643K

c.1927G>A

2 papers

NM_000251.3

p.E643insFs

c.1929dupA

1 paper

NM_000251.3

p.E643fs

c.1927_1928fs

1 paper

NM_000251.3

p.E643_V644insG

c.1927_1931ins3

1 paper

NM_000251.3

p.E643*

c.1927G>T

2 papers

NM_000251.3

p.E643delFs

c.1929delA

1 paper

NM_000251.3

p.E643fs

c.1927_1928fs

1 paper

NM_000251.3

p.V642A

c.1925T>C

1 paper

NM_000251.3

p.V642_V644delFs

c.1926_1930del5

1 paper

NM_000251.3

p.E643_D646del4

c.1927_1937del12

1 paper

NM_000251.3

p.E643G

c.1928A>G

1 paper

NM_000251.3

p.E643_V644delFs

c.1929_1930delAG