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.Q395H

c.1185A>T

Surrounding Variants

1 paper

NM_000251.3

p.R396_Q397insFs

c.1188_1189insGA

1 paper

NM_000251.3

p.Q395H

c.1185A>C

1 paper

NM_000251.3

p.Q395Q

c.1185A>G

3 papers

NM_000251.3

p.R396insFs

c.1186_1187insGG

1 paper

NM_000251.3

p.Q395R

c.1184A>G

1 paper

NM_000251.3

p.Q395L

c.1184A>T

1 paper

NM_000251.3

p.R396_D403delFs

c.1188_1207del20

1 paper

NM_000251.3

p.R396fs

c.1186_1187fs

1 paper

NM_000251.3

p.Q395_R396insFs

c.1185_1186dupAA

1 paper

NM_000251.3

p.Q395_Q397insFs

c.1184_1190dup7

1 paper

NM_000251.3

p.Q395E

c.1183C>G

12 papers

NM_000251.3

p.Q395*

c.1183C>T