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.R406G

c.1216C>G

Surrounding Variants

1 paper

NM_000251.3

p.R406_Y408insFs

c.1217_1223dup7

88 papers

NM_000251.3

p.R406*

c.1216C>T

15 papers

NM_000251.3

p.Y405*

c.1215C>A

15 papers

NM_000251.3

p.Y405*

c.1215C>G

18 papers

NM_000251.3

p.R406Q

c.1217G>A

1 paper

NM_000251.3

p.R406L

c.1217G>T

1 paper

NM_000251.3

p.R406delFs

c.1218delA

1 paper

NM_000251.3

p.R406_L407insFs

c.1218_1219ins5

5 papers

NM_000251.3

p.L407_Y408delFs

c.1221_1222delCT

4 papers

NM_000251.3

p.L407fs

c.1219_1220fs

1 paper

NM_000251.3

p.L407V

c.1219C>G

1 paper

NM_000251.3

p.L407F

c.1219C>T