Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E214del1

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.E214del1
c.640_642delTTC
Surrounding Variants
1 paper
NM_000277.3
p.H208_E214delFs
c.623_642del20
2 papers
NM_000277.3
p.E214G
c.641A>G
1 paper
NM_000277.3
p.Y216_C217insT
c.646_650ins3
1 paper
NM_000277.3
p.E214_K215delFs
c.640_644del5
28 papers
NM_000277.3
p.L213P
c.638T>C
5 papers
NM_000277.3
p.Y216*
c.648C>G
4 papers
NM_000277.3
p.Y216*
c.648C>A
1 paper
NM_000277.3
p.Y216insFs
c.648dupC
5 papers
NM_000277.3
p.C217G
c.649T>G
2 papers
NM_000277.3
p.C217R
c.649T>C
1 paper
NM_000277.3
p.C217S
c.649T>A
3 papers
NM_000277.3
p.L213F
c.637C>T
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."