Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.T255P

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
1 paper
NM_006214.4
p.T255P
c.763A>C
Surrounding Variants
5 papers
NM_006214.4
p.F257S
c.770T>C
1 paper
NM_006214.4
p.L262F
c.784C>T
15 papers
NM_006214.4
p.R245Q
c.734G>A
1 paper
NM_001323083.2
p.A156D
c.467C>A
1 paper
NM_006214.4
p.A244T
c.730G>A
1 paper
NM_006214.4
p.F258_G265del8
c.772_794del24
1 paper
NM_006214.4
p.E241G
c.722A>G
12 papers
NM_006214.4
p.N269H
c.805A>C
1 paper
NM_006214.4
p.K270R
c.809A>G
21 papers
NM_006214.4
p.R275W
c.823C>T
NM_001037537.2
p.R175W
c.523C>T
9 papers
NM_006214.4
p.R275Q
c.824G>A
2 papers
NM_006214.4
p.V229fs
c.685_686fs
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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."