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.D133_L135del3

c.397_404del9

Surrounding Variants

1 paper

NM_000251.3

p.D133_G137delFs

c.397_410del14

1 paper

NM_000251.3

p.I134insFs

c.400_401insCA

2 papers

NM_000251.3

p.D133fs

c.397_398fs

2 papers

NM_000251.3

p.D133Y

c.397G>T

1 paper

NM_000251.3

p.D133fs

c.397_398fs

2 papers

NM_000251.3

p.D133G

c.398A>G

1 paper

NM_000251.3

p.D133V

c.398A>T

3 papers

NM_000251.3

p.D133delFs

c.399delC

3 papers

NM_000251.3

p.E132Q

c.394G>C

1 paper

NM_000251.3

p.E132fs

c.394_395fs

1 paper

NM_000251.3

p.E132*

c.394G>T

1 paper

NM_000251.3

p.D133_I134insFs

c.399_400insCA