Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.I199F

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
7 papers
NM_006214.4
p.I199F
c.595A>T
Surrounding Variants
6 papers
NM_006214.4
p.E197Q
c.589G>C
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
1 paper
NM_006214.4
p.M196V
c.586A>G
1 paper
NM_006214.4
p.T194M
c.581C>T
11 papers
NM_006214.4
p.G204S
c.610G>A
2 papers
NM_006214.4
p.W193ins1
c.577_578insGCC
6 papers
NM_006214.4
p.W193R
c.577T>C
6 papers
NM_006214.4
p.W193R
c.577T>A
1 paper
NM_006214.4
p.A192_W193ins1
c.576_577insGCC
1 paper
NM_006214.4
p.A192_W193insA
c.574_578ins3
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