Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F302L

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.F302L
c.904T>C
Surrounding Variants
2 papers
NM_000277.3
p.F302V
c.904T>G
1 paper
NM_000277.3
p.F302fs
c.904_905fs
1 paper
NM_000277.3
p.F302C
c.905T>G
4 papers
NM_000277.3
p.Q301H
c.903G>T
4 papers
NM_000277.3
p.Q301H
c.903G>C
1 paper
NM_000277.3
p.Q301Q
c.903G>A
1 paper
NM_000277.3
p.F302L
c.906T>G
1 paper
NM_000277.3
p.F302L
c.906T>A
3 papers
NM_000277.3
p.Q301P
c.902A>C
1 paper
NM_000277.3
p.A300delFs
c.900delG
7 papers
NM_000277.3
p.S303A
c.907T>G
13 papers
NM_000277.3
p.S303P
c.907T>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."