Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q235*

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
4 papers
NM_000277.3
p.Q235*
c.703C>T
Surrounding Variants
1 paper
NM_000277.3
p.Q235K
c.703C>A
2 papers
NM_000277.3
p.Q235P
c.704A>C
1 paper
NM_000277.3
p.L234P
c.701T>C
2 papers
NM_000277.3
p.T236Splc
c.706+1G>T
11 papers
NM_000277.3
p.F233L
c.699C>G
11 papers
NM_000277.3
p.F233L
c.699C>A
1 paper
NM_000277.3
p.F233S
c.698T>C
1 paper
NM_000277.3
p.T236Splc
c.706+2T>A
11 papers
NM_000277.3
p.F233L
c.697T>C
2 papers
NM_000277.3
p.F233I
c.697T>A
1 paper
NM_000277.3
p.Q232H
c.696G>T
1 paper
NM_000277.3
p.Q232H
c.696G>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."