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
6 papers
NM_000277.3
p.Q304_E305Splc
c.913-2A>G
Surrounding Variants
1 paper
NM_000277.3
p.Q304_E305Splc
c.913-1G>C
1 paper
NM_000277.3
p.Q304_E305Splc
c.913-1G>A
3 papers
NM_000277.3
p.E305*
c.913G>T
1 paper
NM_000277.3
p.Q304_E305Splc
c.913-5T>G
60 papers
NM_000277.3
p.I306V
c.916A>G
35 papers
NM_000277.3
p.Q304_E305Splc
c.913-7A>G
2 papers
NM_000277.3
p.I306L
c.916A>C
1 paper
NM_000277.3
p.I306delFs
c.916delT
1 paper
NM_000277.3
p.Q304_E305Splc
c.913-8A>G
1 paper
NM_000277.3
p.G307C
c.919G>T
3 papers
NM_000277.3
p.G307S
c.919G>A
2 papers
NM_000277.3
p.G307D
c.920G>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."