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.I216del1

c.646_648delATA

Surrounding Variants

5 papers

NM_000251.3

p.Q215_I216Splc

c.646-1G>A

2 papers

NM_000251.3

p.Q215_I216Splc

c.646-1G>C

1 paper

NM_000251.3

p.I216insFs

c.647_648dupTA

1 paper

NM_000251.3

p.Q215_I216Splc

c.646-1G>T

1 paper

NM_000251.3

p.I216insFs

c.647dupT

7 papers

NM_000251.3

p.Q215_I216Splc

c.646-2A>G

3 papers

NM_000251.3

p.I216V

c.646A>G

1 paper

NM_000251.3

p.I216delFs

c.647delT

2 papers

NM_000251.3

p.I216fs

c.646_647fs

1 paper

NM_000251.3

p.Q215_I216Splc

c.646-3T>C

1 paper

NM_000251.3

p.I216T

c.647T>C

9 papers

NM_000251.3

p.Q215_I216Splc

c.646-3T>G