Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E316V

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.E316V
c.947A>T
Surrounding Variants
1 paper
NM_000277.3
p.Y317H
c.949T>C
1 paper
NM_000277.3
p.Y317N
c.949T>A
5 papers
NM_000277.3
p.D315Y
c.943G>T
2 papers
NM_000277.3
p.P314delFs
c.940delG
8 papers
NM_000277.3
p.I318T
c.953T>C
1 paper
NM_000277.3
p.I318N
c.953T>A
14 papers
NM_000277.3
p.P314H
c.941C>A
1 paper
NM_000277.3
p.S310_A313delFs
c.929_939del11
2 papers
NM_000277.3
p.P314fs
c.940_941fs
9 papers
NM_000277.3
p.P314S
c.940C>T
2 papers
NM_000277.3
p.P314A
c.940C>G
18 papers
NM_000277.3
p.P314T
c.940C>A
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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."