Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y168*

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.Y168*
c.504C>G
Surrounding Variants
2 papers
NM_000277.3
p.Y168fs
c.502_503fs
1 paper
NM_000277.3
p.Y168*
c.504C>A
5 papers
NM_000277.3
p.Y168delFs
c.503delT
9 papers
NM_000277.3
p.R169C
c.505C>T
1 paper
NM_000277.3
p.R169G
c.505C>G
15 papers
NM_000277.3
p.R169S
c.505C>A
3 papers
NM_000277.3
p.R169fs
c.505_506fs
10 papers
NM_000277.3
p.Y168H
c.502T>C
1 paper
NM_000277.3
p.Y168N
c.502T>A
1 paper
NM_000277.3
p.R169L
c.506G>T
6 papers
NM_000277.3
p.R169P
c.506G>C
31 papers
NM_000277.3
p.R169H
c.506G>A
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."