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

1 paper

NM_000251.3

p.F650delFs

c.1950delT

Surrounding Variants

3 papers

NM_000251.3

p.F650insFs

c.1950dupT

2 papers

NM_000251.3

p.F650_D654del5

c.1948_1961del15

1 paper

NM_000251.3

p.A649V

c.1946C>T

1 paper

NM_000251.3

p.F650V

c.1948T>G

1 paper

NM_000251.3

p.F650fs

c.1948_1949fs

3 papers

NM_000251.3

p.A649T

c.1945G>A

1 paper

NM_000251.3

p.A649P

c.1945G>C

2 papers

NM_000251.3

p.A649delFs

c.1946delC

1 paper

NM_000251.3

p.I651insFs

c.1951_1952dupAT

1 paper

NM_000251.3

p.I651_V655del5

c.1951_1964del15

2 papers

NM_000251.3

p.I651fs

c.1951_1952fs

1 paper

NM_000251.3

p.I651insFs

c.1953dupT