Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.P126S

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.P126S
c.376C>T
Surrounding Variants
5 papers
NM_002617.4
p.R125*
c.373C>T
1 paper
NM_002617.4
p.G124delFs
c.372delC
1 paper
NM_002617.4
p.G129delFs
c.387delC
1 paper
NM_002617.4
p.S130fs
c.388_389fs
1 paper
NM_002617.4
p.E116_Q118del0
c.346_354del9
2 papers
NM_002617.4
p.Q118*
c.352C>T
1 paper
NM_002617.4
p.G137D
c.410G>A
2 papers
NM_002617.4
p.L113fs
c.337_338fs
7 papers
NM_002617.4
p.L113delFs
c.337delG
2 papers
NM_002617.4
p.L113fs
c.337_338fs
1 paper
NM_002617.4
p.G140R
c.418G>C
1 paper
NM_002617.4
p.G140R
c.418G>A
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