Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.E248E

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.E248E
c.744G>A
Surrounding Variants
1 paper
NM_002617.4
p.K247*
c.739A>T
1 paper
NM_002617.4
p.L251L
c.751C>T
1 paper
NM_153818.2
p.H272delFs
c.814_815delTG
10 papers
NM_153818.2
p.R264*
c.790C>T
NM_002617.4
p.R244*
c.730C>T
2 papers
NM_002617.4
p.Q243*
c.727C>T
2 papers
NM_002617.4
p.L255insFs
c.764_765insA
1 paper
NM_002617.4
p.L255insFs
c.764dupT
1 paper
NM_002617.4
p.R258C
c.772C>T
1 paper
NM_002617.4
p.Y237Y
c.711C>T
2 papers
NM_002617.4
p.L236fs
c.706_707fs
1 paper
NM_002617.4
p.L236insFs
c.706dupC
3 papers
NM_153818.2
p.L256fs
c.766_767fs
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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."