Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.W326delFs

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.W326delFs
c.976delA
Surrounding Variants
31 papers
NM_000277.3
p.W326*
c.977G>A
1 paper
NM_000277.3
p.W326G
c.976T>G
1 paper
NM_000277.3
p.W326R
c.976T>C
1 paper
NM_000277.3
p.W326C
c.978G>T
1 paper
NM_000277.3
p.W326C
c.978G>C
28 papers
NM_000277.3
p.W326*
c.978G>A
4 papers
NM_000277.3
p.F327L
c.979T>C
14 papers
NM_000277.3
p.Y325*
c.975C>G
12 papers
NM_000277.3
p.Y325*
c.975C>A
1 paper
NM_000277.3
p.F327Y
c.980T>A
3 papers
NM_000277.3
p.Y325F
c.974A>T
3 papers
NM_000277.3
p.Y325C
c.974A>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."