Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.R331Q

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
11 papers
NM_153818.2
p.R331Q
c.992G>A
NM_002617.4
p.R311Q
c.932G>A
Surrounding Variants
1 paper
NM_002617.4
p.C310W
c.930C>G
2 papers
NM_002617.4
p.C310R
c.928T>C
1 paper
NM_002617.4
p.C307S
c.920G>C
4 papers
NM_153818.2
p.C327Y
c.980G>A
NM_002617.4
p.C307Y
c.920G>A
2 papers
NM_153818.2
p.C327R
c.979T>C
NM_002617.4
p.C307R
c.919T>C
1 paper
NM_002617.4
p.C307S
c.919T>A
1 paper
NM_002617.4
p.A305G
c.914C>G
1 paper
NM_002617.4
p.K304_A305Splc
c.913-4G>A
1 paper
NM_002617.4
p.R323insFs
c.967_968ins4
1 paper
NM_002617.4
p.*327R
c.979T>C
1 paper
NM_002617.4
p.*327*
c.980G>A
1 paper
NM_002617.4
p.C301F
c.902G>T
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