Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.V94M

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.V94M
c.280G>A
Surrounding Variants
1 paper
NM_002617.4
p.G93G
c.279C>T
4 papers
NM_002617.4
p.R92H
c.275G>A
1 paper
NM_002617.4
p.R91C
c.271C>T
8 papers
NM_002617.4
p.T97T
c.291A>G
1 paper
NM_002617.4
p.L98L
c.292C>T
1 paper
NM_002617.4
p.S89*
c.266C>A
1 paper
NM_002617.4
p.S88F
c.263C>T
1 paper
NM_002617.4
p.P103_Y104insFs
c.309_310insT
2 papers
NM_002617.4
p.Q78R
c.233A>G
1 paper
NM_002617.4
p.I76I
c.228C>T
2 papers
NM_002617.4
p.L113fs
c.337_338fs
7 papers
NM_002617.4
p.L113delFs
c.337delG
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