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

3 papers

NM_001351132.2

p.P16_L17delFs

c.46_49del4

Surrounding Variants

2 papers

NM_001351132.2

p.P16_L20del0

c.46_60del15

1 paper

NM_001351132.2

p.N15ins1

c.43_44insTCT

1 paper

NM_001351132.2

p.P16_G22delFs

c.46_64del19

1 paper

NM_001351132.2

p.P16A

c.46C>G

1 paper

NM_001351132.2

p.P16fs

c.46_47fs

1 paper

NM_001351132.2

p.G13S

c.37G>A

1 paper

NM_001351132.2

p.M18insFs

c.52_53ins8

4 papers

NM_001351132.2

p.C11S

c.32G>C

1 paper

NM_001351132.2

p.C11delins

c.33delinsC

4 papers

NM_001351132.2

p.C11S

c.31T>A

1 paper

NM_001351132.2

p.C11R

c.31T>C

1 paper

NM_001351132.2

p.C11insFs

c.31dupT