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

5 papers

NM_000251.3

p.C641G

c.1921T>G

Surrounding Variants

1 paper

NM_000251.3

p.C641fs

c.1921_1922fs

1 paper

NM_000251.3

p.C641fs

c.1921_1922fs

2 papers

NM_000251.3

p.C641Y

c.1922G>A

1 paper

NM_000251.3

p.C641delFs

c.1923delT

3 papers

NM_000251.3

p.V642delFs

c.1924_1925delGT

1 paper

NM_000251.3

p.A640D

c.1919C>A

1 paper

NM_000251.3

p.A640_C641insFs

c.1920_1921insT

3 papers

NM_000251.3

p.A640V

c.1919C>T

2 papers

NM_000251.3

p.C641delFs

c.1921delT

1 paper

NM_000251.3

p.C641*

c.1923T>A

1 paper

NM_000251.3

p.E643_V644del2

c.1927_1931del6

4 papers

NM_000251.3

p.V642_Q645del4

c.1924_1934del12