Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q419R

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
44 papers
NM_000277.3
p.Q419R
c.1256A>G
Surrounding Variants
2 papers
NM_000277.3
p.Q419P
c.1256A>C
1 paper
NM_000277.3
p.Q419K
c.1255C>A
1 paper
NM_000277.3
p.R420W
c.1258A>T
4 papers
NM_000277.3
p.R420M
c.1259G>T
1 paper
NM_000277.3
p.R420K
c.1259G>A
6 papers
NM_000277.3
p.T418N
c.1253C>A
1 paper
NM_000277.3
p.T418A
c.1252A>G
30 papers
NM_000277.3
p.T418P
c.1252A>C
1 paper
NM_000277.3
p.Y417*
c.1251C>G
1 paper
NM_000277.3
p.Y417_T418insFs
c.1251_1252insG
1 paper
NM_000277.3
p.Y417*
c.1251C>A
1 paper
NM_000277.3
p.I421S
c.1262T>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."