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.G146V

c.437G>T

Surrounding Variants

2 papers

NM_000251.3

p.G146S

c.436G>A

1 paper

NM_000251.3

p.G146R

c.436G>C

2 papers

NM_000251.3

p.V147insFs

c.439_440dupGT

1 paper

NM_000251.3

p.V147_S153insFs

c.439_457dup19

5 papers

NM_001258281.1

p.V81I

c.241G>A

NM_000251.3

p.V147I

c.439G>A

1 paper

NM_000251.3

p.V147insFs

c.441dupT

1 paper

NM_000251.3

p.I145I

c.435T>C

44 papers

NM_000251.3

p.I145M

c.435T>G

2 papers

NM_000251.3

p.V147D

c.440T>A

1 paper

NM_000251.3

p.I145N

c.434T>A

4 papers

NM_000251.3

p.I145T

c.434T>C

1 paper

NM_000251.3

p.V147A

c.440T>C