Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.G57Splc

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.G57Splc
c.170-2A>T
Surrounding Variants
1 paper
NM_004565.3
p.E61_I63delFs
c.181_187del7
1 paper
NM_004565.3
p.E62_D64delFs
c.184_191del8
4 papers
NM_004565.3
p.S70A
c.208T>G
2 papers
NM_004565.3
p.A74A
c.222C>T
1 paper
NM_004565.3
p.P82L
c.245C>T
1 paper
NM_004565.3
p.T84fs
c.250_251fs
1 paper
NM_004565.3
p.T84delFs
c.251delC
1 paper
NM_004565.3
p.V89I
c.265G>A
1 paper
NM_004565.3
p.G57Splc
c.170-102G>C
1 paper
NM_004565.3
p.Q97P
c.290A>C
1 paper
NM_004565.3
p.P98S
c.292C>T
1 paper
NM_004565.3
p.S100Splc
c.298+1G>C
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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."