Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P175A

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
2 papers
NM_000277.3
p.P175A
c.523C>G
Surrounding Variants
2 papers
NM_000277.3
p.P175S
c.523C>T
1 paper
NM_000277.3
p.P175R
c.524C>G
7 papers
NM_000277.3
p.I174T
c.521T>C
7 papers
NM_000277.3
p.I174N
c.521T>A
1 paper
NM_000277.3
p.Q172_I174del0
c.515_520del6
115 papers
NM_000277.3
p.R176*
c.526C>T
11 papers
NM_000277.3
p.I174V
c.520A>G
38 papers
NM_000277.3
p.R176L
c.527G>T
2 papers
NM_000277.3
p.R176P
c.527G>C
16 papers
NM_000277.3
p.R176Q
c.527G>A
1 paper
NM_000277.3
p.P175_R176delFs
c.524_527del4
21 papers
NM_000277.3
p.V177L
c.529G>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."