Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.P298delFs

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.P298delFs
c.894delG
Surrounding Variants
1 paper
NM_000286.3
p.L297fs
c.889_890fs
12 papers
NM_000286.3
p.L296_L297delFs
c.888_889delAG
3 papers
NM_000286.3
p.L297fs
c.889_890fs
5 papers
NM_000286.3
p.L296fs
c.886_887fs
2 papers
NM_000286.3
p.L296delFs
c.887delA
2 papers
NM_000286.3
p.T302I
c.905C>T
1 paper
NM_000286.3
p.V303A
c.908T>C
2 papers
NM_000286.3
p.C304S
c.910T>A
2 papers
NM_000286.3
p.C304S
c.911G>C
3 papers
NM_000286.3
p.S292delFs
c.875_876delAG
1 paper
NM_000286.3
p.C307S
c.919T>A
1 paper
NM_000286.3
p.C307S
c.920G>C
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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."