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

6 papers

NM_000251.3

p.E422*

c.1264G>T

Surrounding Variants

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

5 papers

NM_000251.3

p.K423delFs

c.1269delA

1 paper

NM_000251.3

p.E422fs

c.1264_1265fs

2 papers

NM_000251.3

p.E422_K423Fs

c.1265_1269delinsGAAAAGFs

4 papers

NM_000251.3

p.L421P

c.1262T>C

1 paper

NM_000251.3

p.K423fs

c.1267_1268fs

6 papers

NM_000251.3

p.K423E

c.1267A>G

3 papers

NM_000251.3

p.K423fs

c.1267_1268fs

4 papers

NM_000251.3

p.L421M

c.1261C>A

1 paper

NM_000251.3

p.L421fs

c.1261_1262fs