Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.H220H

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.H220H
c.660C>T
Surrounding Variants
6 papers
NM_006214.4
p.H220Y
c.658C>T
1 paper
NM_006214.4
p.P223R
c.668C>G
1 paper
NM_006214.4
p.G215R
c.643G>C
2 papers
NM_006214.4
p.E226_G227Splc
c.678+2T>G
7 papers
NM_006214.4
p.E226_G227Splc
c.678+5G>T
5 papers
NM_006214.4
p.T212T
c.636A>G
2 papers
NM_006214.4
p.G211D
c.632G>A
11 papers
NM_006214.4
p.G204S
c.610G>A
1 paper
NM_006214.4
p.R201W
c.601C>T
1 paper
NM_006214.4
p.R201G
c.601C>G
1 paper
NM_006214.4
p.R201R
c.601C>A
7 papers
NM_006214.4
p.I199F
c.595A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."