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.K28_A29delFs

c.82_85del4

Surrounding Variants

1 paper

NM_001351132.2

p.K28R

c.83A>G

1 paper

NM_001351132.2

p.Q26H

c.78G>C

1 paper

NM_001351132.2

p.A29V

c.86C>T

1 paper

NM_001351132.2

p.H23_F24delFs

c.67_70del4

1 paper

NM_001351132.2

p.H23_A29delFs

c.67_85del19

1 paper

NM_001351132.2

p.A21_G22delFs

c.61_64del4

1 paper

NM_001351132.2

p.M18insFs

c.52_53ins8

1 paper

NM_001351132.2

p.P37H

c.110C>A

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.P16_G22delFs

c.46_64del19

3 papers

NM_001351132.2

p.P16_L17delFs

c.46_49del4