Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.H179R

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.H179R
c.536A>G
Surrounding Variants
7 papers
NM_006214.4
p.D177G
c.530A>G
4 papers
NM_006214.4
p.D177A
c.530A>C
1 paper
NM_006214.4
p.P182P
c.546C>T
1 paper
NM_006214.4
p.Q176*
c.526C>T
8 papers
NM_006214.4
p.Q176K
c.526C>A
1 paper
NM_006214.4
p.F183S
c.548T>C
3 papers
NM_006214.4
p.H175R
c.524A>G
1 paper
NM_006214.4
p.H175Y
c.523C>T
7 papers
NM_006214.4
p.P173S
c.517C>T
1 paper
NM_006214.4
p.R171H
c.512G>A
1 paper
NM_006214.4
p.L188L
c.564C>G
1 paper
NM_006214.4
p.I189L
c.565A>C
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