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.K531T

c.1592A>C

Surrounding Variants

4 papers

NM_000251.3

p.V532insFs

c.1594dupG

1 paper

NM_000251.3

p.K531fs

c.1591_1592fs

2 papers

NM_000251.3

p.K531N

c.1593A>C

2 papers

NM_000251.3

p.K531N

c.1593A>T

2 papers

NM_000251.3

p.V532I

c.1594G>A

1 paper

NM_000251.3

p.V532L

c.1594G>C

2 papers

NM_000251.3

p.V532fs

c.1594_1595fs

1 paper

NM_000251.3

p.V532delFs

c.1595delT

1 paper

NM_000251.3

p.V532fs

c.1594_1595fs

1 paper

NM_000251.3

p.E530A

c.1589A>C

3 papers

NM_000251.3

p.E530G

c.1589A>G

1 paper

NM_000251.3

p.V532D

c.1595T>A