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

22 papers

NM_000251.3

p.E425E

c.1275A>G

Surrounding Variants

2 papers

NM_000251.3

p.G426delFs

c.1276delG

1 paper

NM_000251.3

p.E425_G426delFs

c.1275_1276delAG

16 papers

NM_000251.3

p.G426R

c.1276G>A

14 papers

NM_000251.3

p.G426R

c.1276G>C

2 papers

NM_000251.3

p.G426*

c.1276G>T

21 papers

NM_000251.3

p.G426Splc

c.1276+1G>A

2 papers

NM_000251.3

p.E425K

c.1273G>A

3 papers

NM_000251.3

p.G426Splc

c.1276+1G>C

1 paper

NM_000251.3

p.E425insFs

c.1275dupA

6 papers

NM_000251.3

p.E425*

c.1273G>T

6 papers

NM_000251.3

p.G426Splc

c.1276+1G>T

11 papers

NM_000251.3

p.G426Splc

c.1276+2T>A