Varaico: Literature-Extracted Genetic Variants

Gene:PEX10

PEX10

156 papers

RefSeq Summary

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spec...

Pfam Domains

Pex2_Pex12aa 18–243UCSCPex2 / Pex12 amino terminal region
zf-RING_2aa 271–311UCSCRing finger domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 10

HGNC Alias Symbol

RNF69

Papers
RefSeq ID
Protein change
DNA change
1–12 of 167 variants
10 papers
NM_002617.4
p.H290Q
c.870C>G
10 papers
NM_002617.4
p.H290Q
c.870C>A
9 papers
NM_002617.4
p.M1T
c.2T>C
8 papers
NM_002617.4
p.T97T
c.291A>G
8 papers
NM_002617.4
p.L272delFs
c.814_815delAG
7 papers
NM_002617.4
p.A2delFs
c.4delC
7 papers
NM_002617.4
p.L113delFs
c.337delG
7 papers
NM_002617.4
p.R311Q
c.932G>A
6 papers
NM_002617.4
p.Q235insFs
c.704_705insA
6 papers
NM_002617.4
p.I297T
c.890T>C
5 papers
NM_002617.4
p.M1V
c.1A>G
5 papers
NM_002617.4
p.Q67*
c.199C>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."