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

2 papers

NM_000251.3

p.A391D

c.1172C>A

Surrounding Variants

3 papers

NM_000251.3

p.A391V

c.1172C>T

1 paper

NM_000251.3

p.K392insFs

c.1174_1175insGA

1 paper

NM_000251.3

p.K392_R396del0

c.1174_1188del15

2 papers

NM_000251.3

p.A391T

c.1171G>A

1 paper

NM_000251.3

p.A391P

c.1171G>C

1 paper

NM_000251.3

p.A391S

c.1171G>T

1 paper

NM_000251.3

p.A391_F394delFs

c.1172_1181del10

1 paper

NM_000251.3

p.K392Q

c.1174A>C

1 paper

NM_000251.3

p.K392*

c.1174A>T

2 papers

NM_000251.3

p.K392_K393delFs

c.1176_1177delGA

1 paper

NM_000251.3

p.K392fs

c.1174_1175fs

1 paper

NM_000251.3

p.L390L

c.1170T>C