Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.S4*

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
2 papers
NM_004565.3
p.S4*
c.11C>A
Surrounding Variants
1 paper
NM_004565.3
p.S4W
c.11C>G
1 paper
NM_004565.3
p.E5fs
c.13_14fs
1 paper
NM_004565.3
p.Q6H
c.18G>C
1 paper
NM_004565.3
p.Q6H
c.18G>T
1 paper
NM_004565.3
p.M1T
c.2T>C
1 paper
NM_004565.3
p.P10A
c.28C>G
1 paper
NM_004565.3
p.Q12*
c.34C>T
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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."