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.A710T

c.2128G>A

Surrounding Variants

1 paper

NM_000251.3

p.R711insFs

c.2131dupC

1 paper

NM_000251.3

p.A710fs

c.2128_2129fs

1 paper

NM_000251.3

p.A710S

c.2128G>T

1 paper

NM_000251.3

p.A710fs

c.2128_2129fs

1 paper

NM_000251.3

p.A710_A714Fs

c.2128_2142delinsTCGTATAFs

3 papers

NM_000251.3

p.A710delFs

c.2128delG

1 paper

NM_000251.3

p.A710_A714del5

c.2128_2141del15

1 paper

NM_000251.3

p.A710_D716del7

c.2128_2147del21

1 paper

NM_000251.3

p.A710V

c.2129C>T

1 paper

NM_000251.3

p.R711del1

c.2131_2133delCGA

2 papers

NM_000251.3

p.R711_A714del4

c.2131_2141del12

1 paper

NM_000251.3

p.R711insFs

c.2132dupG