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

4 papers

NM_000251.3

p.A266T

c.796G>A

Surrounding Variants

2 papers

NM_000251.3

p.A266fs

c.796_797fs

1 paper

NM_000251.3

p.A266S

c.796G>T

1 paper

NM_000251.3

p.A266fs

c.796_797fs

2 papers

NM_000251.3

p.A266E

c.797C>A

2 papers

NM_000251.3

p.A266V

c.797C>T

1 paper

NM_000251.3

p.A266delFs

c.798delA

1 paper

NM_000251.3

p.A266_V267delFs

c.798_799delAG

1 paper

NM_000251.3

p.V265V

c.795T>C

1 paper

NM_000251.3

p.A266delFs

c.796delG

1 paper

NM_000251.3

p.A266A

c.798A>T

1 paper

NM_000251.3

p.V265A

c.794T>C

1 paper

NM_000251.3

p.V265I

c.793G>A