Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.I326T

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
15 papers
NM_002618.4
p.I326T
c.977T>C
Surrounding Variants
2 papers
NM_002618.4
p.P327R
c.980C>G
1 paper
NM_002618.4
p.L325F
c.973C>T
2 papers
NM_002618.4
p.G324R
c.970G>A
1 paper
NM_002618.4
p.A328A
c.984G>A
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.L318H
c.953T>A
1 paper
NM_002618.4
p.R337T
c.1010G>C
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.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."