Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N393H

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.N393H
c.1177A>C
Surrounding Variants
2 papers
NM_000277.3
p.N393fs
c.1177_1178fs
1 paper
NM_000277.3
p.N393D
c.1177A>G
2 papers
NM_000277.3
p.N393insFs
c.1177_1178insT
1 paper
NM_000277.3
p.N393I
c.1178A>T
1 paper
NM_000277.3
p.N393S
c.1178A>G
3 papers
NM_000277.3
p.F392S
c.1175T>C
37 papers
NM_000277.3
p.F392I
c.1174T>A
1 paper
NM_000277.3
p.D394Y
c.1180G>T
5 papers
NM_000277.3
p.D394H
c.1180G>C
1 paper
NM_000277.3
p.F392_N393del1
c.1176_1178delTTA
1 paper
NM_000277.3
p.F392_N393del2
c.1174_1178del6
1 paper
NM_000277.3
p.S391delFs
c.1171_1172delCT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."