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.S284delFs

c.851delC

Surrounding Variants

1 paper

NM_000251.3

p.S284insFs

c.850_851insC

1 paper

NM_000251.3

p.S284fs

c.850_851fs

1 paper

NM_000251.3

p.S284_N285insG

c.850_854ins3

1 paper

NM_000251.3

p.S284fs

c.850_851fs

1 paper

NM_000251.3

p.S284Y

c.851C>A

1 paper

NM_000251.3

p.S284C

c.851C>G

1 paper

NM_000251.3

p.S284F

c.851C>T

1 paper

NM_000251.3

p.D283E

c.849T>G

1 paper

NM_000251.3

p.S284_G287delFs

c.850_860del11

2 papers

NM_000251.3

p.S284insFs

c.850dupT

1 paper

NM_000251.3

p.D283G

c.848A>G

1 paper

NM_000251.3

p.D283V

c.848A>T