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.A306G

c.917C>G

Surrounding Variants

1 paper

NM_000251.3

p.A306V

c.917C>T

1 paper

NM_000251.3

p.A306delFs

c.918delA

2 papers

NM_000251.3

p.A306T

c.916G>A

1 paper

NM_000251.3

p.V307_R308delFs

c.920_923del4

1 paper

NM_000251.3

p.V307L

c.919G>C

1 paper

NM_000251.3

p.V307fs

c.919_920fs

5 papers

NM_000251.3

p.A305_R308insFs

c.915_922dup8

1 paper

NM_000251.3

p.V307_R308insFs

c.921_922dupCA

1 paper

NM_000251.3

p.R308insFs

c.922dupA

2 papers

NM_000251.3

p.R308_A309insFs

c.924_925dupAG

16 papers

NM_000251.3

p.A305T

c.913G>A

2 papers

NM_000251.3

p.A305fs

c.913_914fs