Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L248P

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.L248P
c.743T>C
Surrounding Variants
1 paper
NM_000277.3
p.L248R
c.743T>G
1 paper
NM_000277.3
p.L249fs
c.745_746fs
39 papers
NM_000277.3
p.L249F
c.745C>T
1 paper
NM_000277.3
p.G247G
c.741C>T
1 paper
NM_000277.3
p.G247delFs
c.740delC
5 papers
NM_000277.3
p.L249P
c.746T>C
4 papers
NM_000277.3
p.L249H
c.746T>A
1 paper
NM_000277.3
p.L249delFs
c.745delG
61 papers
NM_000277.3
p.G247V
c.740G>T
10 papers
NM_000277.3
p.G247D
c.740G>A
31 papers
NM_000277.3
p.G247R
c.739G>C
8 papers
NM_000277.3
p.G247S
c.739G>A
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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."