Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.L188L

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.L188L
c.564C>G
Surrounding Variants
1 paper
NM_006214.4
p.I189L
c.565A>C
1 paper
NM_006214.4
p.V190I
c.568G>A
1 paper
NM_006214.4
p.C191delFs
c.571delA
1 paper
NM_006214.4
p.C191C
c.573C>T
1 paper
NM_006214.4
p.A192_W193insA
c.574_578ins3
1 paper
NM_006214.4
p.A192_W193ins1
c.576_577insGCC
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.F183S
c.548T>C
1 paper
NM_006214.4
p.T194M
c.581C>T
1 paper
NM_006214.4
p.P182P
c.546C>T
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