Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.S199A

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.S199A
c.595T>G
Surrounding Variants
1 paper
NM_004565.3
p.N201K
c.603C>A
1 paper
NM_004565.3
p.N201K
c.603C>G
3 papers
NM_004565.3
p.A196fs
c.586_587fs
1 paper
NM_004565.3
p.E211Q
c.631G>C
1 paper
NM_004565.3
p.S214F
c.641C>T
1 paper
NM_004565.3
p.S218S
c.654C>G
4 papers
NM_004565.3
p.R226Q
c.677G>A
1 paper
NM_004565.3
p.R226Splc
c.677+142C>G
1 paper
NM_004565.3
p.K195_A196Splc
c.586-280C>T
1 paper
NM_004565.3
p.R227W
c.679A>T
1 paper
NM_004565.3
p.P248Q
c.743C>A
1 paper
NM_004565.3
p.S252T
c.755G>C
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