Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.S35delFs

PHYH

151 papers

RefSeq Summary

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA t...

Pfam Domains

PhyHaa 61–277UCSCPhytanoyl-CoA dioxygenase (PhyH)

Gene Aliases

HGNC Name

phytanoyl-CoA 2-hydroxylase

HGNC Alias Symbols

PAHX; PHYH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006214.4
p.S35delFs
c.103delA
Surrounding Variants
1 paper
NM_006214.4
p.S36C
c.107C>G
1 paper
NM_006214.4
p.I34V
c.100A>G
15 papers
NM_006214.4
p.P29S
c.85C>T
1 paper
NM_006214.4
p.V25_V26Splc
c.75+2T>A
1 paper
NM_006214.4
p.V25_V26Splc
c.75+1G>T
1 paper
NM_006214.4
p.R19_G23insFs
c.57_67dup11
1 paper
NM_006214.4
p.G23E
c.68G>A
1 paper
NM_006214.4
p.G23fs
c.67_68fs
1 paper
NM_006214.4
p.S21S
c.63G>A
1 paper
NM_006214.4
p.P20insFs
c.60dupC
1 paper
NM_006214.4
p.R19R
c.57C>G
1 paper
NM_006214.4
p.G18insFs
c.52_53ins8
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."