Varaico: Literature-Extracted Genetic Variants

Gene:PEX5L
Variant:p.Q29*

PEX5L

57 papers

Pfam Domains

TPR_8aa 360–393UCSCTetratricopeptide repeat
TPR_16aa 487–540UCSCTetratricopeptide repeat
TPR_8aa 542–575UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 5 like

HGNC Alias Symbols

PEX5R; PXR2; TRIP8b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_016559.3
p.Q29*
c.85C>T
Surrounding Variants
1 paper
NM_016559.3
p.E24K
c.70G>A
1 paper
NM_016559.3
p.S19insFs
c.57dupT
1 paper
NM_016559.3
p.G13*
c.37G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."