Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.Q185*

PEX14

128 papers

RefSeq Summary

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cyt...

Pfam Domains

Pex14_Naa 24–69UCSCPex14 N-terminal domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_004565.3
p.Q185*
c.553C>T
Surrounding Variants
1 paper
NM_004565.3
p.I184_L191del8
c.550_572del24
1 paper
NM_004565.3
p.Q181_L187del7
c.541_560del21
3 papers
NM_004565.3
p.Q180*
c.538C>T
1 paper
NM_004565.3
p.Q179E
c.535C>G
2 papers
NM_004565.3
p.A192G
c.575C>G
1 paper
NM_004565.3
p.A193T
c.577G>A
1 paper
NM_004565.3
p.K195K
c.585G>A
1 paper
NM_004565.3
p.K195_A196Splc
c.585+1G>T
1 paper
NM_004565.3
p.S172F
c.515C>T
1 paper
NM_004565.3
p.T168A
c.502A>G
1 paper
NM_004565.3
p.V159M
c.475G>A
2 papers
NM_004565.3
p.S158R
c.474C>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."