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.V317I

c.949G>A

Surrounding Variants

1 paper

NM_000251.3

p.V317delFs

c.949delG

1 paper

NM_000251.3

p.S316Y

c.947C>A

1 paper

NM_000251.3

p.S316F

c.947C>T

1 paper

NM_000251.3

p.S316delFs

c.948delT

1 paper

NM_000251.3

p.E318_T321delFs

c.952_962del11

5 papers

NM_000251.3

p.E318K

c.952G>A

1 paper

NM_000251.3

p.E318_D319ins10

c.952_956ins30

2 papers

NM_000251.3

p.E318*

c.952G>T

1 paper

NM_000251.3

p.E318delFs

c.954delA

1 paper

NM_000251.3

p.E318fs

c.952_953fs

1 paper

NM_000251.3

p.S316T

c.946T>A

1 paper

NM_000251.3

p.S316P

c.946T>C