Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y204*

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
17 papers
NM_000277.3
p.Y204*
c.612T>G
Surrounding Variants
1 paper
NM_000277.3
p.Y204Y
c.612T>C
16 papers
NM_000277.3
p.Y204*
c.612T>A
1 paper
NM_000277.3
p.E205K
c.613G>A
7 papers
NM_000277.3
p.L197_Y204delFs
c.590_612del23
1 paper
NM_000277.3
p.Y204F
c.611A>T
149 papers
NM_000277.3
p.Y204C
c.611A>G
2 papers
NM_000277.3
p.E205A
c.614A>C
16 papers
NM_000277.3
p.Y198_E205delFs
c.592_613del22
2 papers
NM_000277.3
p.E205D
c.615G>T
3 papers
NM_000277.3
p.E205D
c.615G>C
7 papers
NM_000277.3
p.Y198_E205delFs
c.593_614del22
1 paper
NM_000277.3
p.C203W
c.609C>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."