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

2 papers

NM_000251.3

p.G195fs

c.583_584fs

Surrounding Variants

1 paper

NM_000251.3

p.G195R

c.583G>A

1 paper

NM_000251.3

p.G195R

c.583G>C

1 paper

NM_000251.3

p.G195fs

c.583_584fs

2 papers

NM_000251.3

p.G195A

c.584G>C

7 papers

NM_000251.3

p.P196delFs

c.587delC

7 papers

NM_000251.3

p.I194T

c.581T>C

1 paper

NM_000251.3

p.I194S

c.581T>G

1 paper

NM_000251.3

p.I194_G195insAT

c.580_584ins6

2 papers

NM_000251.3

p.I194V

c.580A>G

3 papers

NM_000251.3

p.P196fs

c.586_587fs

1 paper

NM_000251.3

p.P196_K197insG

c.586_590ins3

2 papers

NM_000251.3

p.P196S

c.586C>T