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

14 papers

NM_001351132.2

p.N526K

c.1578T>A

Surrounding Variants

14 papers

NM_001351132.2

p.N526K

c.1578T>G

1 paper

NM_001351132.2

p.D521_L528del0

c.1561_1584del24

1 paper

NM_001351132.2

p.N520_D521Splc

c.1561-2A>C

1 paper

NM_001351132.2

p.E540G

c.1619A>G

3 papers

NM_001351132.2

p.R557W

c.1669C>T

1 paper

NM_001351132.2

p.S565I

c.1694G>T

1 paper

NM_001351132.2

p.A571T

c.1711G>A

1 paper

NM_001351132.2

p.R573Splc

c.1718+2T>C

1 paper

NM_001351132.2

p.R590W

c.1768C>T

2 papers

NM_001351132.2

p.S600W

c.1799C>G

3 papers

NM_001351132.2

p.S600L

c.1799C>T

1 paper

NM_001351132.2

p.E601fs

c.1801_1802fs