Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L288F

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.L288F
c.864G>C
Surrounding Variants
1 paper
NM_000277.3
p.L288F
c.864G>T
1 paper
NM_000277.3
p.G289_H290insCTT
c.865_869ins9
8 papers
NM_000277.3
p.G289R
c.865G>C
8 papers
NM_000277.3
p.G289R
c.865G>A
1 paper
NM_000277.3
p.L287_L288insFs
c.861_862insG
1 paper
NM_000277.3
p.L288M
c.862T>A
1 paper
NM_000277.3
p.G289A
c.866G>C
1 paper
NM_000277.3
p.L287L
c.861G>C
2 papers
NM_000277.3
p.L287Q
c.860T>A
1 paper
NM_000277.3
p.H290Y
c.868C>T
1 paper
NM_000277.3
p.G289delFs
c.866_867delTC
1 paper
NM_000277.3
p.E286_G289del4
c.856_866del12
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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."