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

3 papers

NM_000251.3

p.C527fs

c.1579_1580fs

Surrounding Variants

1 paper

NM_000251.3

p.C527S

c.1579T>A

1 paper

NM_000251.3

p.C527G

c.1579T>G

2 papers

NM_000251.3

p.C527delFs

c.1580delG

3 papers

NM_000251.3

p.C527fs

c.1579_1580fs

2 papers

NM_000251.3

p.C527insFs

c.1579dupT

2 papers

NM_000251.3

p.T526T

c.1578C>G

1 paper

NM_000251.3

p.C527delFs

c.1579delT

1 paper

NM_000251.3

p.C527delFs

c.1579_1580delTG

1 paper

NM_000251.3

p.C527S

c.1580G>C

1 paper

NM_000251.3

p.T526_C527insFs

c.1578_1579dupCT

1 paper

NM_000251.3

p.T526S

c.1577C>G

2 papers

NM_000251.3

p.T526I

c.1577C>T