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.P107A

c.319C>G

Surrounding Variants

1 paper

NM_001351132.2

p.P107S

c.319C>T

1 paper

NM_001351132.2

p.E116D

c.348G>C

1 paper

NM_001351132.2

p.E116D

c.348G>T

1 paper

NM_001351132.2

p.L123V

c.367C>G

2 papers

NM_001351132.2

p.Q133*

c.397C>T

1 paper

NM_001351132.2

p.D134N

c.400G>A

4 papers

NM_001351132.2

p.N136_E147del12

c.406_440del36

2 papers

NM_001351132.2

p.S141A

c.421T>G

1 paper

NM_001351132.2

p.F144L

c.430T>C

1 paper

NM_001351132.2

p.F144L

c.432C>A

1 paper

NM_001351132.2

p.F144L

c.432C>G

1 paper

NM_001351132.2

p.P103_Q104insFs

c.309_310insT