Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V153L

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.V153L
c.457G>T
Surrounding Variants
1 paper
NM_000277.3
p.V153L
c.457G>C
1 paper
NM_000277.3
p.V153M
c.457G>A
1 paper
NM_000277.3
p.P152L
c.455C>T
1 paper
NM_000277.3
p.Y154D
c.460T>G
10 papers
NM_000277.3
p.Y154H
c.460T>C
3 papers
NM_000277.3
p.Y154N
c.460T>A
2 papers
NM_000277.3
p.P152S
c.454C>T
1 paper
NM_000277.3
p.P152A
c.454C>G
1 paper
NM_000277.3
p.P152T
c.454C>A
3 papers
NM_000277.3
p.D151E
c.453T>G
3 papers
NM_000277.3
p.D151E
c.453T>A
2 papers
NM_000277.3
p.Y154F
c.461A>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."