Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.C296S

PEX19

76 papers

RefSeq Summary

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are...

Pfam Domains

Pex19aa 74–299UCSCPex19 protein family

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 19

HGNC Previous Symbol

PXF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_002857.4
p.C296S
c.886T>A
Surrounding Variants
5 papers
NM_002857.4
p.C296S
c.887G>C
1 paper
NM_002857.4
p.M299T
c.896T>C
1 paper
NM_002857.4
p.P289A
c.865C>G
1 paper
NM_002857.4
p.S286L
c.857C>T
1 paper
NM_002857.4
p.L283F
c.847C>T
1 paper
NM_002857.4
p.L276P
c.827T>C
1 paper
NM_002857.4
p.P274L
c.821C>T
1 paper
NM_002857.4
p.P274R
c.821C>G
1 paper
NM_002857.4
p.P273R
c.818C>G
1 paper
NM_002857.4
p.P265S
c.793C>T
1 paper
NM_002857.4
p.H263Y
c.787C>T
1 paper
NM_002857.4
p.Q257*
c.769C>T
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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."