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

6 papers

NM_000251.3

p.K528_E529del2

c.1582_1586del6

Surrounding Variants

1 paper

NM_000251.3

p.K528delFs

c.1583delA

3 papers

NM_000251.3

p.K528Q

c.1582A>C

2 papers

NM_000251.3

p.K528*

c.1582A>T

1 paper

NM_000251.3

p.C527S

c.1580G>C

2 papers

NM_000251.3

p.K528R

c.1583A>G

1 paper

NM_000251.3

p.K528M

c.1583A>T

1 paper

NM_000251.3

p.C527S

c.1579T>A

1 paper

NM_000251.3

p.C527G

c.1579T>G

3 papers

NM_000251.3

p.C527fs

c.1579_1580fs

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