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
2 papers
NM_000277.3
p.P281Splc
c.842+4A>G
Surrounding Variants
2 papers
NM_000277.3
p.P281Splc
c.842+4A>T
14 papers
NM_000277.3
p.P281Splc
c.842+3G>C
15 papers
NM_000277.3
p.P281Splc
c.842+5G>A
1 paper
NM_000277.3
p.P281Splc
c.842+6T>C
1 paper
NM_000277.3
p.P281Splc
c.842+2T>C
43 papers
NM_000277.3
p.P281Splc
c.842+2T>A
1 paper
NM_000277.3
p.P281Splc
c.842+6T>A
2 papers
NM_000277.3
p.P281Splc
c.842+1G>T
1 paper
NM_000277.3
p.P281Splc
c.842+1G>C
65 papers
NM_000277.3
p.P281Splc
c.842+1G>A
1 paper
NM_000277.3
p.P281delFs
c.842delG
104 papers
NM_000277.3
p.P281L
c.842C>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."