Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P416L

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
2 papers
NM_000277.3
p.P416L
c.1247C>T
Surrounding Variants
7 papers
NM_000277.3
p.P416Q
c.1247C>A
1 paper
NM_000277.3
p.P416T
c.1246C>A
1 paper
NM_000277.3
p.P416delins
c.1247_1248delinsAC
3 papers
NM_000277.3
p.D415delFs
c.1245delG
3 papers
NM_000277.3
p.P416fs
c.1246_1247fs
1 paper
NM_000277.3
p.Y417D
c.1249T>G
15 papers
NM_000277.3
p.Y417H
c.1249T>C
3 papers
NM_000277.3
p.Y417N
c.1249T>A
1 paper
NM_000277.3
p.P416delFs
c.1248delT
1 paper
NM_000277.3
p.D415V
c.1244A>T
11 papers
NM_000277.3
p.Y417C
c.1250A>G
6 papers
NM_000277.3
p.D415Y
c.1243G>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."