Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.Y73*

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
Selected Variant
1 paper
NM_002617.4
p.Y73*
c.219C>A
Surrounding Variants
1 paper
NM_002617.4
p.Y73*
c.219C>G
1 paper
NM_002617.4
p.E71*
c.211G>T
2 papers
NM_002617.4
p.E71K
c.211G>A
1 paper
NM_002617.4
p.I76I
c.228C>T
3 papers
NM_002617.4
p.G70E
c.209G>A
3 papers
NM_002617.4
p.G70R
c.208G>C
3 papers
NM_002617.4
p.G70R
c.208G>A
2 papers
NM_002617.4
p.Q78R
c.233A>G
2 papers
NM_002617.4
p.T68N
c.203C>A
2 papers
NM_002617.4
p.Q67R
c.200A>G
5 papers
NM_002617.4
p.Q67*
c.199C>T
1 paper
NM_002617.4
p.G65fs
c.193_194fs
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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."