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

9 papers

NM_000251.3

p.R406_L407insFs

c.1216_1219dup4

Surrounding Variants

1 paper

NM_000251.3

p.Y405fs

c.1213_1214fs

1 paper

NM_000251.3

p.Y405fs

c.1213_1214fs

3 papers

NM_000251.3

p.Y405_R406insFs

c.1213_1217dup5

15 papers

NM_000251.3

p.Y405*

c.1215C>A

15 papers

NM_000251.3

p.Y405*

c.1215C>G

2 papers

NM_000251.3

p.C404F

c.1211G>T

2 papers

NM_000251.3

p.Y405delFs

c.1213delT

1 paper

NM_000251.3

p.C404_Y405delFs

c.1212_1213delTT

1 paper

NM_000251.3

p.R406_Y408insFs

c.1217_1223dup7

1 paper

NM_000251.3

p.R406G

c.1216C>G

88 papers

NM_000251.3

p.R406*

c.1216C>T

1 paper

NM_000251.3

p.C404insFs

c.1211dupG