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.S928P

c.2782T>C

Surrounding Variants

4 papers

NM_000251.3

p.S928*

c.2783C>A

1 paper

NM_000251.3

p.S928*

c.2783C>G

1 paper

NM_000251.3

p.R929_I930del2

c.2785_2789del6

1 paper

NM_000251.3

p.S928_R929del2

c.2782_2786del6

1 paper

NM_000251.3

p.I927T

c.2780T>C

1 paper

NM_000251.3

p.I927V

c.2779A>G

1 paper

NM_000251.3

p.I927fs

c.2779_2780fs

1 paper

NM_000251.3

p.R929insFs

c.2786dupG

1 paper

NM_000251.3

p.R929G

c.2785C>G

41 papers

NM_000251.3

p.R929*

c.2785C>T

1 paper

NM_000251.3

p.I927insFs

c.2779dupA

9 papers

NM_000251.3

p.R929Q

c.2786G>A