Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.S252T

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.S252T
c.755G>C
Surrounding Variants
1 paper
NM_004565.3
p.P248Q
c.743C>A
2 papers
NM_004565.3
p.S265L
c.794C>T
1 paper
NM_004565.3
p.P266L
c.797C>T
3 papers
NM_004565.3
p.S275L
c.824C>T
1 paper
NM_004565.3
p.R227W
c.679A>T
1 paper
NM_004565.3
p.T287M
c.860C>T
1 paper
NM_004565.3
p.Y290C
c.869A>G
1 paper
NM_004565.3
p.G294fs
c.880_881fs
1 paper
NM_004565.3
p.G294V
c.881G>T
1 paper
NM_004565.3
p.V305F
c.913G>T
1 paper
NM_004565.3
p.R320K
c.959G>A
1 paper
NM_004565.3
p.E321A
c.962A>C
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