Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.R40insFs

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.R40insFs
c.118_119insGT
Surrounding Variants
1 paper
NM_004565.3
p.R40fs
c.118_119fs
1 paper
NM_004565.3
p.R40delFs
c.119_120delGG
1 paper
NM_004565.3
p.S39F
c.116C>T
1 paper
NM_004565.3
p.R42C
c.124C>T
1 paper
NM_004565.3
p.R42_A51delFs
c.126_151del26
1 paper
NM_004565.3
p.L36R
c.107T>G
1 paper
NM_004565.3
p.F35S
c.104T>C
1 paper
NM_004565.3
p.V33A
c.98T>C
1 paper
NM_004565.3
p.T48delFs
c.142_143delAC
1 paper
NM_004565.3
p.T48_A51delFs
c.143_153del11
4 papers
NM_004565.3
p.F52F
c.156C>T
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