Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I324N

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
21 papers
NM_000277.3
p.I324N
c.971T>A
Surrounding Variants
1 paper
NM_000277.3
p.I324M
c.972T>G
1 paper
NM_000277.3
p.I324V
c.970A>G
6 papers
NM_000277.3
p.T323_I324Splc
c.970-1G>T
2 papers
NM_000277.3
p.T323_I324Splc
c.970-1G>C
3 papers
NM_000277.3
p.Y325F
c.974A>T
4 papers
NM_000277.3
p.T323_I324Splc
c.970-2A>G
3 papers
NM_000277.3
p.Y325C
c.974A>G
1 paper
NM_000277.3
p.Y325S
c.974A>C
1 paper
NM_000277.3
p.I324delFs
c.972delA
1 paper
NM_000277.3
p.T323_I324Splc
c.970-3C>T
14 papers
NM_000277.3
p.Y325*
c.975C>G
1 paper
NM_000277.3
p.T323_I324Splc
c.970-3C>G
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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."