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

2 papers

NM_000251.3

p.F131V

c.391T>G

Surrounding Variants

1 paper

NM_000251.3

p.F131L

c.391T>C

1 paper

NM_000251.3

p.F131_E132insG

c.391_395ins3

1 paper

NM_000251.3

p.F131_E132ins4

c.391_395ins12

1 paper

NM_000251.3

p.Q130H

c.390G>C

1 paper

NM_000251.3

p.Q130H

c.390G>T

1 paper

NM_000251.3

p.F131delFs

c.393delT

1 paper

NM_000251.3

p.F131_E132delFs

c.393_396del4

1 paper

NM_000251.3

p.Q130insFs

c.390dupG

1 paper

NM_000251.3

p.F131L

c.393T>A

1 paper

NM_000251.3

p.F131L

c.393T>G

1 paper

NM_000251.3

p.F131_E132insFs

c.393_394insC

1 paper

NM_000251.3

p.E132delFs

c.394_395delGA