Varaico: Literature-Extracted Genetic Variants

Gene:PAH

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
1–12 of 1887 variants
490 papers
NM_000277.3
p.R408W
c.1222C>T
441 papers
NM_000277.3
p.R261Q
c.782G>A
292 papers
NM_000277.3
p.R243Q
c.728G>A
275 papers
NM_000277.3
p.P281L
c.842C>T
255 papers
NM_000277.3
p.Y414C
c.1241A>G
249 papers
NM_000277.3
p.R158Q
c.473G>A
246 papers
NM_000277.3
p.I65T
c.194T>C
235 papers
NM_000277.3
p.R252W
c.754C>T
226 papers
NM_000277.3
p.Q355_Y356Splc
c.1066-11G>A
215 papers
NM_000277.3
p.L48S
c.143T>C
194 papers
NM_000277.3
p.R241C
c.721C>T
194 papers
NM_000277.3
p.A403V
c.1208C>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."