Varaico: Literature-Extracted Genetic Variants

Gene:PHYHIPL
Variant:p.F195L

PHYHIPL

23 papers

Pfam Domains

fn3aa 51–154UCSCFibronectin type III domain
PHYHIP_Caa 157–376UCSCPhytanoyl-CoA hydroxylase-interacting protein C-terminus

Gene Aliases

HGNC Name

phytanoyl-CoA 2-hydroxylase interacting protein like

HGNC Alias Symbols

KIAA1796; Em:AC025038.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032439.4
p.F195L
c.583T>C
Surrounding Variants
1 paper
NM_032439.4
p.F195L
c.585T>A
1 paper
NM_032439.4
p.F195L
c.585T>G
1 paper
NM_032439.4
p.Y194N
c.580T>A
1 paper
NM_032439.4
p.R188C
c.562C>T
1 paper
NM_032439.4
p.H165L
c.494A>T
2 papers
NM_032439.4
p.R119H
c.356G>A
1 paper
NM_032439.4
p.P104S
c.310C>T
1 paper
NM_032439.4
p.D102N
c.304G>A
1 paper
NM_032439.4
p.H100N
c.298C>A
1 paper
NM_032439.4
p.E71D
c.213A>C
1 paper
NM_032439.4
p.E71D
c.213A>T
1 paper
NM_032439.4
p.N60I
c.179A>T
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