Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A246D

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
5 papers
NM_000277.3
p.A246D
c.737C>A
Surrounding Variants
7 papers
NM_000277.3
p.A246V
c.737C>T
2 papers
NM_000277.3
p.A246delFs
c.737delG
1 paper
NM_000277.3
p.A246fs
c.736_737fs
1 paper
NM_000277.3
p.A246T
c.736G>A
31 papers
NM_000277.3
p.G247R
c.739G>C
29 papers
NM_000277.3
p.V245V
c.735G>A
8 papers
NM_000277.3
p.G247S
c.739G>A
78 papers
NM_000277.3
p.V245A
c.734T>C
12 papers
NM_000277.3
p.V245E
c.734T>A
61 papers
NM_000277.3
p.G247V
c.740G>T
10 papers
NM_000277.3
p.G247D
c.740G>A
6 papers
NM_000277.3
p.V245L
c.733G>T
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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."