Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F351I

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.F351I
c.1051T>A
Surrounding Variants
1 paper
NM_000277.3
p.F351L
c.1051T>C
1 paper
NM_000277.3
p.F351L
c.1053T>G
1 paper
NM_000277.3
p.F351L
c.1053T>A
12 papers
NM_000277.3
p.S350Y
c.1049C>A
3 papers
NM_000277.3
p.S350T
c.1048T>A
15 papers
NM_000277.3
p.G352fs
c.1054_1055fs
1 paper
NM_000277.3
p.G352C
c.1054G>T
9 papers
NM_000277.3
p.G352R
c.1054G>C
3 papers
NM_000277.3
p.G352S
c.1054G>A
1 paper
NM_000277.3
p.G352V
c.1055G>T
5 papers
NM_000277.3
p.G352fs
c.1054_1055fs
20 papers
NM_000277.3
p.G352delFs
c.1055delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."