Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.G324R

PEX13

101 papers

RefSeq Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protei...

Pfam Domains

Peroxin-13_Naa 117–254UCSCPeroxin 13, N-terminal region
SH3_9aa 279–332UCSCVariant SH3 domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 13

HGNC Previous Name

peroxisome biogenesis factor 13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002618.4
p.G324R
c.970G>A
Surrounding Variants
2 papers
NM_002618.4
p.G324R
c.970G>C
2 papers
NM_002618.4
p.G324*
c.970G>T
1 paper
NM_002618.4
p.L325F
c.973C>T
15 papers
NM_002618.4
p.I326T
c.977T>C
2 papers
NM_002618.4
p.P327R
c.980C>G
1 paper
NM_002618.4
p.A328A
c.984G>A
1 paper
NM_002618.4
p.L318H
c.953T>A
2 papers
NM_002618.4
p.W313*
c.939G>A
2 papers
NM_002618.4
p.W313*
c.938G>A
10 papers
NM_002618.4
p.W313G
c.937T>G
1 paper
NM_002618.4
p.R337T
c.1010G>C
1 paper
NM_002618.4
p.T342M
c.1025C>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."