Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.V159M

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.V159M
c.475G>A
Surrounding Variants
2 papers
NM_004565.3
p.S158R
c.474C>A
2 papers
NM_004565.3
p.S158R
c.474C>G
2 papers
NM_004565.3
p.S158R
c.472A>C
1 paper
NM_004565.3
p.G157D
c.470G>A
1 paper
NM_004565.3
p.L155L
c.463C>T
1 paper
NM_004565.3
p.A150S
c.448G>T
1 paper
NM_004565.3
p.R147W
c.439A>T
1 paper
NM_004565.3
p.K143_S153del11
c.427_458del33
1 paper
NM_004565.3
p.R142_K143del2
c.424_428del6
1 paper
NM_004565.3
p.R139Q
c.416G>A
1 paper
NM_004565.3
p.G138S
c.412G>A
1 paper
NM_004565.3
p.T168A
c.502A>G
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