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.M351I

c.1053G>A

Surrounding Variants

1 paper

NM_000251.3

p.M351I

c.1053G>C

1 paper

NM_000251.3

p.M351I

c.1053G>T

2 papers

NM_000251.3

p.D352N

c.1054G>A

4 papers

NM_000251.3

p.D352H

c.1054G>C

1 paper

NM_000251.3

p.D352fs

c.1054_1055fs

2 papers

NM_000251.3

p.M351T

c.1052T>C

1 paper

NM_000251.3

p.M351R

c.1052T>G

1 paper

NM_000251.3

p.M351delFs

c.1053delG

2 papers

NM_000251.3

p.D352_E358del7

c.1054_1073del21

2 papers

NM_000251.3

p.D352G

c.1055A>G

1 paper

NM_000251.3

p.M351V

c.1051A>G

1 paper

NM_000251.3

p.D352V

c.1055A>T