Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V329L

PAH

1,542 papers

RefSeq Summary

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rat...

Pfam Domains

ACTaa 35–100UCSCACT domain
Biopterin_Haa 119–449UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

phenylalanine hydroxylase

HGNC Alias Symbol

PH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000277.3
p.V329L
c.985G>T
Surrounding Variants
1 paper
NM_000277.3
p.V329A
c.986T>C
1 paper
NM_000277.3
p.W326_V329delFs
c.978_985del8
1 paper
NM_000277.3
p.T328I
c.983C>T
1 paper
NM_000277.3
p.T328N
c.983C>A
1 paper
NM_000277.3
p.E330Q
c.988G>C
1 paper
NM_000277.3
p.E330K
c.988G>A
1 paper
NM_000277.3
p.V329delFs
c.986_987delCA
3 papers
NM_000277.3
p.T328A
c.982A>G
1 paper
NM_000277.3
p.T328P
c.982A>C
4 papers
NM_000277.3
p.F327L
c.981T>G
4 papers
NM_000277.3
p.F327L
c.981T>A
2 papers
NM_000277.3
p.V329del1
c.985_986delCAC
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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."