Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D129G

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
21 papers
NM_000277.3
p.D129G
c.386A>G
Surrounding Variants
1 paper
NM_000277.3
p.D129V
c.386A>T
5 papers
NM_000277.3
p.D129Y
c.385G>T
1 paper
NM_000277.3
p.R130*
c.388A>T
1 paper
NM_000277.3
p.D129delFs
c.387delG
1 paper
NM_000277.3
p.Q126_D129del4
c.376_386del12
3 papers
NM_000277.3
p.L128P
c.383T>C
1 paper
NM_000277.3
p.L128delFs
c.382delG
1 paper
NM_000277.3
p.E127D
c.381G>T
1 paper
NM_000277.3
p.E127D
c.381G>C
1 paper
NM_000277.3
p.F131C
c.392T>G
1 paper
NM_000277.3
p.E127G
c.380A>G
1 paper
NM_000277.3
p.E127A
c.380A>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."