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.E572insFs

c.1716dupA

Surrounding Variants

2 papers

NM_000251.3

p.E572K

c.1714G>A

2 papers

NM_000251.3

p.E572fs

c.1714_1715fs

1 paper

NM_000251.3

p.E572G

c.1715A>G

5 papers

NM_000251.3

p.A573delFs

c.1717delG

1 paper

NM_000251.3

p.A573delFs

c.1717_1718delGC

3 papers

NM_000251.3

p.A573T

c.1717G>A

3 papers

NM_000251.3

p.A573fs

c.1717_1718fs

2 papers

NM_000251.3

p.E571*

c.1711G>T

1 paper

NM_000251.3

p.A573S

c.1717G>T

1 paper

NM_000251.3

p.E571delFs

c.1713delA

6 papers

NM_000251.3

p.Q574delFs

c.1720delC

2 papers

NM_000251.3

p.A573fs

c.1717_1718fs