Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L83delFs

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
2 papers
NM_000277.3
p.L83delFs
c.248delA
Surrounding Variants
22 papers
NM_000277.3
p.D84Y
c.250G>T
1 paper
NM_000277.3
p.D84N
c.250G>A
2 papers
NM_000277.3
p.L83fs
c.247_248fs
2 papers
NM_000277.3
p.D84G
c.251A>G
1 paper
NM_000277.3
p.D84delFs
c.251delT
3 papers
NM_000277.3
p.K85*
c.253A>T
1 paper
NM_000277.3
p.H82R
c.245A>G
1 paper
NM_000277.3
p.D84del1
c.250_251delATC
2 papers
NM_000277.3
p.H82Y
c.244C>T
1 paper
NM_000277.3
p.H82N
c.244C>A
1 paper
NM_000277.3
p.R86C
c.256C>T
6 papers
NM_000277.3
p.R86P
c.257G>C
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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."