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.S637_R638delFs

c.1909_1913del5

Surrounding Variants

3 papers

NM_000251.3

p.A636V

c.1907C>T

1 paper

NM_000251.3

p.A636delFs

c.1908delA

1 paper

NM_000251.3

p.S637T

c.1909T>A

2 papers

NM_000251.3

p.S637A

c.1909T>G

8 papers

NM_000251.3

p.S637delFs

c.1910delC

1 paper

NM_000251.3

p.S637delFs

c.1910_1911delCC

1 paper

NM_000251.3

p.A636T

c.1906G>A

185 papers

NM_000251.3

p.A636P

c.1906G>C

3 papers

NM_000251.3

p.A636delFs

c.1907delC

3 papers

NM_000251.3

p.A636fs

c.1906_1907fs

1 paper

NM_000251.3

p.A636_A640delFs

c.1907_1920del14

1 paper

NM_000251.3

p.A636insFs

c.1906dupG