Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.H310D

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
5 papers
NM_153818.2
p.H310D
c.928C>G
NM_002617.4
p.H290D
c.868C>G
Surrounding Variants
12 papers
NM_153818.2
p.H310Q
c.930C>G
NM_002617.4
p.H290Q
c.870C>G
12 papers
NM_153818.2
p.H310Q
c.930C>A
NM_002617.4
p.H290Q
c.870C>A
4 papers
NM_002617.4
p.F292delFs
c.874_875delAA
3 papers
NM_153818.2
p.W314*
c.941G>A
NM_002617.4
p.W294*
c.881G>A
3 papers
NM_153818.2
p.W314*
c.942G>A
NM_002617.4
p.W294*
c.882G>A
1 paper
NM_002617.4
p.T284I
c.851C>T
2 papers
NM_002617.4
p.C296F
c.887G>T
6 papers
NM_002617.4
p.I297T
c.890T>C
1 paper
NM_002617.4
p.H282D
c.844C>G
1 paper
NM_002617.4
p.A299S
c.895G>T
1 paper
NM_002617.4
p.R280C
c.838C>T
6 papers
NM_153818.2
p.E299*
c.895G>T
NM_002617.4
p.E279*
c.835G>T
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