Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355_Y356Splc

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.Q355_Y356Splc
c.1065+1G>A
Surrounding Variants
4 papers
NM_000277.3
p.Q355_Y356Splc
c.1065+1G>T
1 paper
NM_000277.3
p.Q355_Y356ins3
c.1065_1066ins9
1 paper
NM_000277.3
p.Q355H
c.1065G>T
1 paper
NM_000277.3
p.Q355H
c.1065G>C
4 papers
NM_000277.3
p.Q355_Y356Splc
c.1065+3A>G
4 papers
NM_000277.3
p.Q355*
c.1063C>T
2 papers
NM_000277.3
p.Q355_Y356ins3
c.1063_1067ins9
1 paper
NM_000277.3
p.L354Fs
c.1060_1062delinsAGFs
1 paper
NM_000277.3
p.Q355_Y356Splc
c.1065+7C>A
1 paper
NM_000277.3
p.E353A
c.1058A>C
4 papers
NM_000277.3
p.E353*
c.1057G>T
2 papers
NM_000277.3
p.G352delFs
c.1056delA
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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."