Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc

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
1 paper
NM_000277.3
p.P281Splc
c.843-6T>C
Surrounding Variants
10 papers
NM_000277.3
p.P281Splc
c.843-5T>C
11 papers
NM_000277.3
p.P281S
c.841C>T
7 papers
NM_000277.3
p.P281A
c.841C>G
1 paper
NM_000277.3
p.P281Splc
c.843-2A>T
1 paper
NM_000277.3
p.P281Splc
c.843-1G>A
275 papers
NM_000277.3
p.P281L
c.842C>T
10 papers
NM_000277.3
p.P281R
c.842C>G
2 papers
NM_000277.3
p.P281P
c.843T>A
1 paper
NM_000277.3
p.D282Y
c.844G>T
1 paper
NM_000277.3
p.P281insFs
c.843dupT
15 papers
NM_000277.3
p.D282N
c.844G>A
8 papers
NM_000277.3
p.D282G
c.845A>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."