Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q304_E305Splc

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
18 papers
NM_000277.3
p.Q304_E305Splc
c.912+1G>A
Surrounding Variants
2 papers
NM_000277.3
p.Q304_E305Splc
c.912+1G>C
4 papers
NM_000277.3
p.Q304_E305Splc
c.912+2T>C
1 paper
NM_000277.3
p.Q304H
c.912G>T
1 paper
NM_000277.3
p.Q304H
c.912G>C
11 papers
NM_000277.3
p.Q304Q
c.912G>A
5 papers
NM_000277.3
p.Q304R
c.911A>G
1 paper
NM_000277.3
p.Q304P
c.911A>C
5 papers
NM_000277.3
p.Q304*
c.910C>T
6 papers
NM_000277.3
p.Q304K
c.910C>A
1 paper
NM_000277.3
p.S303del1
c.907_908delGGA
2 papers
NM_000277.3
p.S303fs
c.907_908fs
1 paper
NM_000277.3
p.S303F
c.908C>T
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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."