Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L72_K73delFs

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.L72_K73delFs
c.216_217delTT
Surrounding Variants
1 paper
NM_000277.3
p.K73delFs
c.217delT
1 paper
NM_000277.3
p.K73T
c.218A>C
1 paper
NM_000277.3
p.K73fs
c.217_218fs
1 paper
NM_000277.3
p.L72_K73insFs
c.216_217insT
6 papers
NM_000277.3
p.D75H
c.223G>C
1 paper
NM_000277.3
p.D75N
c.223G>A
1 paper
NM_000277.3
p.L72V
c.214T>G
2 papers
NM_000277.3
p.D75V
c.224A>T
3 papers
NM_000277.3
p.D75G
c.224A>G
1 paper
NM_000277.3
p.L72_D75del0
c.215_223del9
2 papers
NM_000277.3
p.E76*
c.226G>T
2 papers
NM_000277.3
p.P69_S70ins0
c.205_210dup6
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."