Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.K42_V43Splc

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.K42_V43Splc
c.127-2A>G
Surrounding Variants
1 paper
NM_000286.3
p.D60delFs
c.178_179delTC
1 paper
NM_000286.3
p.T64P
c.190A>C
3 papers
NM_000286.3
p.L68del1
c.202_203delAAG
1 paper
NM_000286.3
p.Y74D
c.220T>G
1 paper
NM_000286.3
p.Y74H
c.220T>C
1 paper
NM_000286.3
p.Y74*
c.222T>G
1 paper
NM_000286.3
p.Y74*
c.222T>A
1 paper
NM_000286.3
p.R77K
c.230G>A
1 paper
NM_000286.3
p.S79T
c.236G>C
2 papers
NM_000286.3
p.Y87*
c.261C>G
1 paper
NM_000286.3
p.Y87insFs
c.260_261insAA
2 papers
NM_000286.3
p.Y87*
c.261C>A
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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."