Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H170Q

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
24 papers
NM_000277.3
p.H170Q
c.510T>A
Surrounding Variants
20 papers
NM_000277.3
p.H170Q
c.510T>G
2 papers
NM_000277.3
p.G171W
c.511G>T
10 papers
NM_000277.3
p.G171R
c.511G>C
1 paper
NM_000277.3
p.H170Splc
c.510-1G>C
10 papers
NM_000277.3
p.G171R
c.511G>A
7 papers
NM_000277.3
p.H170Splc
c.510-1G>A
6 papers
NM_000277.3
p.H170R
c.509A>G
2 papers
NM_000277.3
p.H170P
c.509A>C
1 paper
NM_000277.3
p.G171V
c.512G>T
12 papers
NM_000277.3
p.G171A
c.512G>C
2 papers
NM_000277.3
p.G171E
c.512G>A
13 papers
NM_000277.3
p.H170D
c.508C>G
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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."