Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N376D

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.N376D
c.1126A>G
Surrounding Variants
3 papers
NM_000277.3
p.N376fs
c.1126_1127fs
2 papers
NM_000277.3
p.Q375H
c.1125A>T
2 papers
NM_000277.3
p.Q375H
c.1125A>C
1 paper
NM_000277.3
p.Q375_N376delFs
c.1123_1126del4
3 papers
NM_000277.3
p.N376delFs
c.1127delT
3 papers
NM_000277.3
p.Q375R
c.1124A>G
1 paper
NM_000277.3
p.Y377D
c.1129T>G
20 papers
NM_000277.3
p.Q375E
c.1123C>G
1 paper
NM_000277.3
p.Y377F
c.1130A>T
1 paper
NM_000277.3
p.Y377C
c.1130A>G
4 papers
NM_000277.3
p.Y377delFs
c.1129delA
1 paper
NM_000277.3
p.Y377*
c.1131C>A
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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."