Varaico: Literature-Extracted Genetic Variants

Gene:PHYH

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
1–12 of 138 variants
20 papers
NM_006214.4
p.R275W
c.823C>T
15 papers
NM_006214.4
p.P29S
c.85C>T
15 papers
NM_006214.4
p.R245Q
c.734G>A
14 papers
NM_006214.4
p.Q45Splc
c.135-2A>G
12 papers
NM_006214.4
p.N269H
c.805A>C
11 papers
NM_006214.4
p.G204S
c.610G>A
9 papers
NM_006214.4
p.R275Q
c.824G>A
8 papers
NM_006214.4
p.Q176K
c.526C>A
7 papers
NM_006214.4
p.N51N
c.153C>T
7 papers
NM_006214.4
p.P173S
c.517C>T
7 papers
NM_006214.4
p.D177G
c.530A>G
7 papers
NM_006214.4
p.I199F
c.595A>T
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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."