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

3 papers

NM_000251.3

p.K931T

c.2792A>C

Surrounding Variants

1 paper

NM_000251.3

p.V932_T934del3

c.2794_2801del9

4 papers

NM_000251.3

p.I930M

c.2790A>G

1 paper

NM_000251.3

p.V932I

c.2794G>A

1 paper

NM_000251.3

p.V932fs

c.2794_2795fs

1 paper

NM_000251.3

p.I930fs

c.2788_2789fs

2 papers

NM_000251.3

p.I930insFs

c.2789dupT

1 paper

NM_000251.3

p.I930L

c.2788A>C

1 paper

NM_000251.3

p.T933insFs

c.2797dupA

1 paper

NM_000251.3

p.T933fs

c.2797_2798fs

2 papers

NM_000251.3

p.T933A

c.2797A>G

1 paper

NM_000251.3

p.T933delFs

c.2798_2799delCT

2 papers

NM_000251.3

p.T933fs

c.2797_2798fs