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.R219insFs

c.655dupA

Surrounding Variants

1 paper

NM_000251.3

p.Q218insFs

c.652_653insT

2 papers

NM_000251.3

p.Q218E

c.652C>G

7 papers

NM_000251.3

p.Q218*

c.652C>T

1 paper

NM_000251.3

p.Q218delFs

c.654delA

1 paper

NM_000251.3

p.Q218L

c.653A>T

1 paper

NM_000251.3

p.I217M

c.651T>G

1 paper

NM_000251.3

p.Q218Q

c.654A>G

1 paper

NM_000251.3

p.R219_G221delFs

c.657_661del5

1 paper

NM_000251.3

p.I217T

c.650T>C

1 paper

NM_000251.3

p.I217_R219delFs

c.651_655del5

2 papers

NM_000251.3

p.I217fs

c.649_650fs

2 papers

NM_000251.3

p.R219fs

c.655_656fs