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.K635R

c.1904A>G

Surrounding Variants

1 paper

NM_000251.3

p.A636insFs

c.1906dupG

2 papers

NM_000251.3

p.L634L

c.1902A>G

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

3 papers

NM_000251.3

p.A636V

c.1907C>T

1 paper

NM_000251.3

p.A636delFs

c.1908delA

5 papers

NM_000251.3

p.L634*

c.1901T>A

6 papers

NM_000251.3

p.L634*

c.1901T>G

1 paper

NM_000251.3

p.K635insFs

c.1904dupA