Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.F330fs

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.F330fs
c.988_989fs
Surrounding Variants
1 paper
NM_000286.3
p.C328S
c.983G>C
1 paper
NM_000286.3
p.C328S
c.982T>A
1 paper
NM_000286.3
p.R327H
c.980G>A
1 paper
NM_000286.3
p.C325S
c.974G>C
1 paper
NM_000286.3
p.C325S
c.973T>A
1 paper
NM_000286.3
p.C339S
c.1015T>A
1 paper
NM_000286.3
p.C339S
c.1016G>C
15 papers
NM_000286.3
p.S320F
c.959C>T
3 papers
NM_000286.3
p.L317F
c.949C>T
1 paper
NM_000286.3
p.R311Q
c.932G>A
1 paper
NM_000286.3
p.R311W
c.931C>T
6 papers
NM_000286.3
p.Q349_H350del1
c.1047_1049delTGT
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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."