Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R413G

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
1 paper
NM_000277.3
p.R413G
c.1237C>G
Surrounding Variants
7 papers
NM_000277.3
p.R413C
c.1237C>T
10 papers
NM_000277.3
p.R413S
c.1237C>A
167 papers
NM_000277.3
p.R413P
c.1238G>C
5 papers
NM_000277.3
p.R413H
c.1238G>A
2 papers
NM_000277.3
p.V412D
c.1235T>A
1 paper
NM_000277.3
p.Y414H
c.1240T>C
1 paper
NM_000277.3
p.V412F
c.1234G>T
1 paper
NM_000277.3
p.Y414F
c.1241A>T
255 papers
NM_000277.3
p.Y414C
c.1241A>G
6 papers
NM_000277.3
p.Y414Y
c.1242C>T
8 papers
NM_000277.3
p.S411*
c.1232C>G
7 papers
NM_000277.3
p.Y414*
c.1242C>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."