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

5 papers

NM_000251.3

p.A305fs

c.913_914fs

Surrounding Variants

16 papers

NM_000251.3

p.A305T

c.913G>A

2 papers

NM_000251.3

p.A305fs

c.913_914fs

5 papers

NM_000251.3

p.A305_R308insFs

c.915_922dup8

1 paper

NM_000251.3

p.I304M

c.912T>G

2 papers

NM_000251.3

p.A305insFs

c.913dupG

6 papers

NM_000251.3

p.A305_R308delFs

c.914_923del10

2 papers

NM_000251.3

p.I304T

c.911T>C

3 papers

NM_000251.3

p.I304insFs

c.912dupT

2 papers

NM_000251.3

p.I304V

c.910A>G

1 paper

NM_000251.3

p.I304F

c.910A>T

1 paper

NM_000251.3

p.I304delFs

c.911delT

2 papers

NM_000251.3

p.A306T

c.916G>A