Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P147_G148Splc

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.P147_G148Splc
c.441+4A>G
Surrounding Variants
1 paper
NM_000277.3
p.P147_G148Splc
c.441+4A>C
76 papers
NM_000277.3
p.P147_G148Splc
c.441+5G>T
12 papers
NM_000277.3
p.P147_G148Splc
c.441+3G>C
5 papers
NM_000277.3
p.P147_G148Splc
c.441+5G>A
1 paper
NM_000277.3
p.P147_G148Splc
c.441+3G>A
1 paper
NM_000277.3
p.P147_G148Splc
c.441+2T>G
2 papers
NM_000277.3
p.P147_G148Splc
c.441+2T>C
7 papers
NM_000277.3
p.P147_G148Splc
c.441+2T>A
1 paper
NM_000277.3
p.P147_G148Splc
c.441+6T>A
8 papers
NM_000277.3
p.P147_G148Splc
c.441+1G>C
18 papers
NM_000277.3
p.P147_G148Splc
c.441+1G>A
2 papers
NM_000277.3
p.P147P
c.441T>C
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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."