Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q126*

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
3 papers
NM_000277.3
p.Q126*
c.376C>T
Surrounding Variants
3 papers
NM_000277.3
p.Q126R
c.377A>G
1 paper
NM_000277.3
p.I125fs
c.373_374fs
1 paper
NM_000277.3
p.E127K
c.379G>A
17 papers
NM_000277.3
p.I125F
c.373A>T
1 paper
NM_000277.3
p.T124delFs
c.372delG
1 paper
NM_000277.3
p.E127G
c.380A>G
1 paper
NM_000277.3
p.E127A
c.380A>C
1 paper
NM_000277.3
p.E127D
c.381G>T
1 paper
NM_000277.3
p.E127D
c.381G>C
3 papers
NM_000277.3
p.T124I
c.371C>T
2 papers
NM_000277.3
p.T124N
c.371C>A
1 paper
NM_000277.3
p.T124A
c.370A>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."