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.G673R

c.2017G>A

Surrounding Variants

1 paper

NM_000251.3

p.G673*

c.2017G>T

2 papers

NM_000251.3

p.G673E

c.2018G>A

1 paper

NM_000251.3

p.G673_S676del4

c.2017_2027del12

1 paper

NM_000251.3

p.G674insFs

c.2021dupG

2 papers

NM_000251.3

p.M672R

c.2015T>G

3 papers

NM_000251.3

p.M672delFs

c.2016delG

4 papers

NM_000251.3

p.M672fs

c.2014_2015fs

1 paper

NM_000251.3

p.M672V

c.2014A>G

9 papers

NM_000251.3

p.M672delFs

c.2015delT

2 papers

NM_000251.3

p.M672fs

c.2014_2015fs

20 papers

NM_000251.3

p.G674S

c.2020G>A

11 papers

NM_000251.3

p.G674R

c.2020G>C