Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.I92S

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.I92S
c.275T>G
Surrounding Variants
4 papers
NM_000286.3
p.R91S
c.273A>T
4 papers
NM_000286.3
p.R91S
c.273A>C
1 paper
NM_000286.3
p.R91K
c.272G>A
2 papers
NM_000286.3
p.K90_R91delFs
c.268_271del4
1 paper
NM_000286.3
p.K90delFs
c.268_269delTT
1 paper
NM_000286.3
p.K90R
c.269A>G
2 papers
NM_000286.3
p.K90fs
c.268_269fs
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
1 paper
NM_000286.3
p.H98Y
c.292C>T
1 paper
NM_000286.3
p.S100A
c.298T>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."