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.Q397H

c.1191A>C

Surrounding Variants

3 papers

NM_000251.3

p.A398insFs

c.1192dupG

2 papers

NM_000251.3

p.Q397H

c.1191A>T

3 papers

NM_000251.3

p.Q397R

c.1190A>G

3 papers

NM_000251.3

p.A398T

c.1192G>A

2 papers

NM_000251.3

p.A398fs

c.1192_1193fs

1 paper

NM_000251.3

p.A398delFs

c.1193delC

1 paper

NM_000251.3

p.A398fs

c.1192_1193fs

1 paper

NM_000251.3

p.Q397insFs

c.1190_1191dupAA

1 paper

NM_000251.3

p.Q397insFs

c.1189_1190ins4

1 paper

NM_000251.3

p.Q397E

c.1189C>G

20 papers

NM_000251.3

p.Q397*

c.1189C>T

2 papers

NM_000251.3

p.A398V

c.1193C>T