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.K423fs

c.1267_1268fs

Surrounding Variants

1 paper

NM_000251.3

p.K423fs

c.1267_1268fs

6 papers

NM_000251.3

p.K423E

c.1267A>G

2 papers

NM_000251.3

p.E422_K423Fs

c.1265_1269delinsGAAAAGFs

1 paper

NM_000251.3

p.H424delFs

c.1270delC

2 papers

NM_000251.3

p.H424insFs

c.1270_1271insA

2 papers

NM_000251.3

p.H424fs

c.1270_1271fs

1 paper

NM_000251.3

p.H424D

c.1270C>G

1 paper

NM_000251.3

p.H424Y

c.1270C>T

1 paper

NM_000251.3

p.H424fs

c.1270_1271fs

3 papers

NM_000251.3

p.E422K

c.1264G>A

3 papers

NM_000251.3

p.K423insFs

c.1269dupA

1 paper

NM_000251.3

p.E422fs

c.1264_1265fs