Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.K231*

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.K231*
c.691A>T
Surrounding Variants
1 paper
NM_000286.3
p.V228_S229delFs
c.684_687del4
1 paper
NM_000286.3
p.S227Splc
c.681-2A>G
4 papers
NM_000286.3
p.S227Splc
c.681-2A>C
2 papers
NM_000286.3
p.G241V
c.722G>T
1 paper
NM_000286.3
p.L245ins1
c.733_734insGCC
2 papers
NM_000286.3
p.L245I
c.733T>A
7 papers
NM_000286.3
p.A244_L245insFs
c.730_733dup4
2 papers
NM_000286.3
p.L245fs
c.733_734fs
3 papers
NM_000286.3
p.T249insFs
c.745_746insT
1 paper
NM_000286.3
p.F256fs
c.766_767fs
1 paper
NM_000286.3
p.Q259*
c.775C>T
1 paper
NM_000286.3
p.F260_L261insAA
c.778_782ins6
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