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.G315insFs

c.945dupT

Surrounding Variants

1 paper

NM_000251.3

p.G315D

c.944G>A

14 papers

NM_000251.3

p.G315V

c.944G>T

1 paper

NM_000251.3

p.G315fs

c.943_944fs

1 paper

NM_000251.3

p.G315C

c.943G>T

6 papers

NM_000251.3

p.G315fs

c.943_944fs

2 papers

NM_000251.3

p.S316delFs

c.946_947delTC

16 papers

NM_000251.3

p.Q314_G315Splc

c.943-1G>A

15 papers

NM_000251.3

p.Q314_G315Splc

c.943-1G>C

6 papers

NM_000251.3

p.Q314_G315Splc

c.943-1G>T

1 paper

NM_000251.3

p.S316T

c.946T>A

1 paper

NM_000251.3

p.S316P

c.946T>C

5 papers

NM_000251.3

p.Q314_G315Splc

c.943-2A>G