Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I283F

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
17 papers
NM_000277.3
p.I283F
c.847A>T
Surrounding Variants
1 paper
NM_000277.3
p.I283V
c.847A>G
1 paper
NM_000277.3
p.I283insFs
c.847dupA
1 paper
NM_000277.3
p.I283T
c.848T>C
15 papers
NM_000277.3
p.I283N
c.848T>A
8 papers
NM_000277.3
p.D282G
c.845A>G
2 papers
NM_000277.3
p.C284R
c.850T>C
1 paper
NM_000277.3
p.D282Y
c.844G>T
1 paper
NM_000277.3
p.P281insFs
c.843dupT
15 papers
NM_000277.3
p.D282N
c.844G>A
2 papers
NM_000277.3
p.P281P
c.843T>A
2 papers
NM_000277.3
p.C284Y
c.851G>A
1 paper
NM_000277.3
p.P281Splc
c.843-1G>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."