Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E44del1

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
4 papers
NM_000277.3
p.E44del1
c.130_131delTTC
Surrounding Variants
3 papers
NM_000277.3
p.V45A
c.134T>C
2 papers
NM_000277.3
p.G46R
c.136G>C
69 papers
NM_000277.3
p.G46S
c.136G>A
1 paper
NM_000277.3
p.G46V
c.137G>T
1 paper
NM_000277.3
p.G46A
c.137G>C
3 papers
NM_000277.3
p.G46D
c.137G>A
1 paper
NM_000277.3
p.E44A
c.131A>C
2 papers
NM_000277.3
p.G46fs
c.136_137fs
1 paper
NM_000277.3
p.G46delFs
c.137delC
1 paper
NM_000277.3
p.E44Q
c.130G>C
1 paper
NM_000277.3
p.K42_E43delFs
c.126_129del4
1 paper
NM_000277.3
p.A47S
c.139G>T
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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."