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

5 papers

NM_000251.3

p.E357*

c.1069G>T

Surrounding Variants

3 papers

NM_000251.3

p.E357K

c.1069G>A

2 papers

NM_000251.3

p.E357Q

c.1069G>C

2 papers

NM_000251.3

p.E357_E358insFs

c.1071_1072dupGG

2 papers

NM_000251.3

p.E357A

c.1070A>C

2 papers

NM_000251.3

p.I356M

c.1068A>G

1 paper

NM_000251.3

p.E357V

c.1070A>T

1 paper

NM_000251.3

p.E357delFs

c.1071delG

1 paper

NM_000251.3

p.E357E

c.1071G>A

1 paper

NM_000251.3

p.E357D

c.1071G>C

1 paper

NM_000251.3

p.E357D

c.1071G>T

1 paper

NM_000251.3

p.E358_R359delFs

c.1073_1076del4

6 papers

NM_000251.3

p.I356K

c.1067T>A