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

1–12 of 148 variants

14 papers

NM_001351132.2

p.N526K

c.1578T>A

14 papers

NM_001351132.2

p.N526K

c.1578T>G

7 papers

NM_001351132.2

p.A46_A49del4

c.136_146del12

4 papers

NM_001351132.2

p.C11S

c.31T>A

4 papers

NM_001351132.2

p.C11S

c.32G>C

4 papers

NM_001351132.2

p.N136_E147del12

c.406_440del36

4 papers

NM_001351132.2

p.K209R

c.626A>G

3 papers

NM_001351132.2

p.P16_L17delFs

c.46_49del4

3 papers

NM_001351132.2

p.F218S

c.653T>C

3 papers

NM_001351132.2

p.R220W

c.658C>T

3 papers

NM_001351132.2

p.E241insFs

c.722dupA

3 papers

NM_001351132.2

p.R276*

c.826C>T