Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.R180*

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
12 papers
NM_000286.3
p.R180*
c.538C>T
Surrounding Variants
1 paper
NM_000286.3
p.R180G
c.538C>G
1 paper
NM_000286.3
p.Q178_L179del2
c.532_536del6
7 papers
NM_000286.3
p.Q178_L179del1
c.533_535delGTT
2 papers
NM_000286.3
p.Y181D
c.541T>G
3 papers
NM_000286.3
p.Y181insFs
c.541_542insT
3 papers
NM_000286.3
p.Y181fs
c.541_542fs
1 paper
NM_000286.3
p.Q178L
c.533A>T
1 paper
NM_000286.3
p.E171K
c.511G>A
1 paper
NM_000286.3
p.H189Y
c.565C>T
1 paper
NM_000286.3
p.W170*
c.510G>A
1 paper
NM_000286.3
p.W170*
c.509G>A
5 papers
NM_000286.3
p.R202*
c.604C>T
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