Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.H146Q

PEX12

125 papers

RefSeq Summary

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of geneti...

Pfam Domains

Pex2_Pex12aa 26–267UCSCPex2 / Pex12 amino terminal region

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000286.3
p.H146Q
c.438T>A
Surrounding Variants
1 paper
NM_000286.3
p.H146Q
c.438T>G
1 paper
NM_000286.3
p.I145delFs
c.434delA
1 paper
NM_000286.3
p.Y143*
c.429T>G
1 paper
NM_000286.3
p.Y143*
c.429T>A
1 paper
NM_000286.3
p.R151C
c.451C>T
1 paper
NM_000286.3
p.E142*
c.424G>T
1 paper
NM_000286.3
p.R151H
c.452G>A
1 paper
NM_000286.3
p.S149_W152delFs
c.445_454del10
1 paper
NM_000286.3
p.E140G
c.419A>G
1 paper
NM_000286.3
p.E140*
c.418G>T
1 paper
NM_000286.3
p.R154*
c.460C>T
1 paper
NM_000286.3
p.F155S
c.464T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."