Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q336H

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.Q336H
c.1008A>C
Surrounding Variants
1 paper
NM_000277.3
p.Q336H
c.1008A>T
3 papers
NM_000277.3
p.Q336R
c.1007A>G
1 paper
NM_000277.3
p.G337V
c.1010G>T
1 paper
NM_000277.3
p.G337E
c.1010G>A
7 papers
NM_000277.3
p.Q336*
c.1006C>T
1 paper
NM_000277.3
p.Q336E
c.1006C>G
18 papers
NM_000277.3
p.D338Y
c.1012G>T
1 paper
NM_000277.3
p.K335E
c.1003A>G
1 paper
NM_000277.3
p.D338A
c.1013A>C
1 paper
NM_000277.3
p.D338E
c.1014C>G
2 papers
NM_000277.3
p.C334*
c.1002C>A
3 papers
NM_000277.3
p.C334S
c.1001G>C
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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."