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.C199_V200insFs

c.597_598ins4

Surrounding Variants

1 paper

NM_000251.3

p.C199C

c.597T>C

1 paper

NM_000251.3

p.C199W

c.597T>G

4 papers

NM_000251.3

p.C199Y

c.596G>A

3 papers

NM_000251.3

p.V200I

c.598G>A

2 papers

NM_000251.3

p.L201insFs

c.602dupT

1 paper

NM_000251.3

p.C199_V200insFs

c.597_598insT

1 paper

NM_000251.3

p.C199delFs

c.597delT

13 papers

NM_000251.3

p.V200D

c.599T>A

35 papers

NM_000251.3

p.C199R

c.595T>C

2 papers

NM_000251.3

p.C199delFs

c.596delG

2 papers

NM_000251.3

p.C199fs

c.595_596fs

1 paper

NM_000251.3

p.E198_C199insFs

c.594_595ins13