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

5 papers

NM_000251.3

p.P622R

c.1865C>G

Surrounding Variants

3 papers

NM_000251.3

p.P622Q

c.1865C>A

1 paper

NM_000251.3

p.P622insFs

c.1865_1866insA

54 papers

NM_000251.3

p.P622L

c.1865C>T

2 papers

NM_000251.3

p.P622delFs

c.1866delA

3 papers

NM_000251.3

p.A623delFs

c.1867delG

17 papers

NM_000251.3

p.P622T

c.1864C>A

4 papers

NM_000251.3

p.P622A

c.1864C>G

7 papers

NM_000251.3

p.P622S

c.1864C>T

2 papers

NM_000251.3

p.P622fs

c.1864_1865fs

1 paper

NM_000251.3

p.P622_A623insFs

c.1866_1869dup4

1 paper

NM_000251.3

p.R621R

c.1863A>T

2 papers

NM_000251.3

p.P622delFs

c.1865delC