Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.Q360H

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
1 paper
NM_004565.3
p.Q360H
c.1080G>C
Surrounding Variants
1 paper
NM_004565.3
p.Q360H
c.1080G>T
1 paper
NM_004565.3
p.R366W
c.1096C>T
1 paper
NM_004565.3
p.P367P
c.1101C>T
1 paper
NM_004565.3
p.G353E
c.1058G>A
1 paper
NM_004565.3
p.A370insFs
c.1108_1109insA
1 paper
NM_004565.3
p.S371G
c.1111A>G
1 paper
NM_004565.3
p.R350H
c.1049G>A
1 paper
NM_004565.3
p.S371T
c.1112G>C
1 paper
NM_004565.3
p.R376W
c.1126C>T
2 papers
NM_004565.3
p.G344G
c.1032G>T
1 paper
NM_004565.3
p.*378W
c.1133A>G
1 paper
NM_004565.3
p.D338G
c.1013A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."