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.R711_A714del4

c.2131_2141del12

Surrounding Variants

1 paper

NM_000251.3

p.R711del1

c.2131_2133delCGA

1 paper

NM_000251.3

p.R711insFs

c.2132dupG

77 papers

NM_000251.3

p.R711*

c.2131C>T

1 paper

NM_000251.3

p.A710V

c.2129C>T

1 paper

NM_000251.3

p.R711_V712delFs

c.2133_2134delAG

9 papers

NM_000251.3

p.R711Q

c.2132G>A

1 paper

NM_000251.3

p.A710T

c.2128G>A

9 papers

NM_000251.3

p.R711P

c.2132G>C

1 paper

NM_000251.3

p.R711insFs

c.2131dupC

1 paper

NM_000251.3

p.A710fs

c.2128_2129fs

2 papers

NM_000251.3

p.R711L

c.2132G>T

1 paper

NM_000251.3

p.A710S

c.2128G>T