Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.H282D

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.H282D
c.844C>G
Surrounding Variants
1 paper
NM_002617.4
p.R280C
c.838C>T
1 paper
NM_002617.4
p.T284I
c.851C>T
6 papers
NM_153818.2
p.E299*
c.895G>T
NM_002617.4
p.E279*
c.835G>T
1 paper
NM_002617.4
p.E279K
c.835G>A
1 paper
NM_153818.2
p.E298*
c.892G>T
6 papers
NM_002617.4
p.L277P
c.830T>C
NM_153818.2
p.L297P
c.890T>C
4 papers
NM_153818.2
p.C296F
c.887G>T
NM_002617.4
p.C276F
c.827G>T
1 paper
NM_002617.4
p.L275L
c.825G>A
1 paper
NM_002617.4
p.T274fs
c.820_821fs
1 paper
NM_002617.4
p.T274I
c.821C>T
5 papers
NM_153818.2
p.H310D
c.928C>G
NM_002617.4
p.H290D
c.868C>G
5 papers
NM_002617.4
p.T274A
c.820A>G
NM_153818.2
p.T294A
c.880A>G
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