Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.R34S

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
7 papers
NM_000286.3
p.R34S
c.102A>T
Surrounding Variants
6 papers
NM_000286.3
p.R34S
c.102A>C
1 paper
NM_000286.3
p.T31I
c.92C>T
7 papers
NM_000286.3
p.K42_V43Splc
c.126+1G>T
1 paper
NM_000286.3
p.A14D
c.41C>A
1 paper
NM_000286.3
p.S12insFs
c.34_35ins4
1 paper
NM_000286.3
p.T9delFs
c.26_27delTG
1 paper
NM_000286.3
p.H7R
c.20A>G
1 paper
NM_000286.3
p.A6insFs
c.16dupG
1 paper
NM_000286.3
p.A2V
c.5C>T
1 paper
NM_000286.3
p.M1T
c.2T>C
1 paper
NM_000286.3
p.M1V
c.1A>G
1 paper
NM_000286.3
p.K42_V43Splc
c.127-2A>G
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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."