Varaico: Literature-Extracted Genetic Variants

PEX5

150 papers

RefSeq Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins th...

Pfam Domains

TPR_16aa 339–402UCSCTetratricopeptide repeat

TPR_16aa 521–577UCSCTetratricopeptide repeat

TPR_8aa 556–589UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 5

HGNC Previous Symbol

PXR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001351132.2

p.N98D

c.292A>G

Surrounding Variants

1 paper

NM_001351132.2

p.S97A

c.289T>G

1 paper

NM_001351132.2

p.S97delFs

c.289delT

1 paper

NM_001351132.2

p.R100C

c.298C>T

1 paper

NM_001351132.2

p.R100H

c.299G>A

1 paper

NM_001351132.2

p.P103_Q104insFs

c.309_310insT

1 paper

NM_001351132.2

p.A89T

c.265G>A

1 paper

NM_001351132.2

p.D85_D86del1

c.255_257delTGA

1 paper

NM_001351132.2

p.F82_D85del4

c.244_254del12

1 paper

NM_001351132.2

p.R77H

c.230G>A

1 paper

NM_001351132.2

p.S76S

c.228C>T

1 paper

NM_001351132.2

p.L67_Q70del4

c.199_209del12

1 paper

NM_001351132.2

p.V63A

c.188T>C