Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.G233delFs

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
2 papers
NM_002617.4
p.G233delFs
c.697delC
Surrounding Variants
1 paper
NM_002617.4
p.Q235*
c.703C>T
1 paper
NM_002617.4
p.Q235fs
c.703_704fs
10 papers
NM_153818.2
p.Q255insFs
c.764dupA
NM_002617.4
p.Q235insFs
c.704_705insA
3 papers
NM_153818.2
p.L256fs
c.766_767fs
1 paper
NM_002617.4
p.L236insFs
c.706dupC
2 papers
NM_002617.4
p.L236fs
c.706_707fs
1 paper
NM_002617.4
p.Y237Y
c.711C>T
2 papers
NM_002617.4
p.Q243*
c.727C>T
10 papers
NM_153818.2
p.R264*
c.790C>T
NM_002617.4
p.R244*
c.730C>T
1 paper
NM_002617.4
p.K247*
c.739A>T
1 paper
NM_002617.4
p.L220P
c.659T>C
1 paper
NM_002617.4
p.E248E
c.744G>A
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