Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D75N

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.D75N
c.223G>A
Surrounding Variants
6 papers
NM_000277.3
p.D75H
c.223G>C
2 papers
NM_000277.3
p.D75V
c.224A>T
3 papers
NM_000277.3
p.D75G
c.224A>G
1 paper
NM_000277.3
p.L72_D75del0
c.215_223del9
2 papers
NM_000277.3
p.E76*
c.226G>T
1 paper
NM_000277.3
p.E76Q
c.226G>C
1 paper
NM_000277.3
p.K73delFs
c.217delT
1 paper
NM_000277.3
p.L72_K73delFs
c.216_217delTT
1 paper
NM_000277.3
p.E76V
c.227A>T
12 papers
NM_000277.3
p.E76G
c.227A>G
7 papers
NM_000277.3
p.E76A
c.227A>C
2 papers
NM_000277.3
p.E76D
c.228G>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."