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

3 papers

NM_000251.3

p.V417_I418delFs

c.1249_1253del5

Surrounding Variants

3 papers

NM_000251.3

p.N416_Q419insFs

c.1247_1257dup11

1 paper

NM_000251.3

p.N416D

c.1246A>G

2 papers

NM_000251.3

p.N416Y

c.1246A>T

1 paper

NM_000251.3

p.N416insFs

c.1248dupT

1 paper

NM_000251.3

p.N416T

c.1247A>C

1 paper

NM_000251.3

p.N416S

c.1247A>G

2 papers

NM_000251.3

p.P415R

c.1244C>G

3 papers

NM_000251.3

p.P415L

c.1244C>T

7 papers

NM_000251.3

p.V417delFs

c.1249delG

2 papers

NM_000251.3

p.V417_I418delFs

c.1249_1252del4

3 papers

NM_000251.3

p.P415fs

c.1243_1244fs

1 paper

NM_000251.3

p.P415insFs

c.1243_1244ins4