Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A4V

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.A4V
c.11C>T
Surrounding Variants
1 paper
NM_000277.3
p.A4Fs
c.11delinsGTGFs
1 paper
NM_000277.3
p.A4delins
c.11delinsA
2 papers
NM_000277.3
p.A4T
c.10G>A
1 paper
NM_000277.3
p.T3_A4ins1
c.9_10insGGG
1 paper
NM_000277.3
p.V5fs
c.13_14fs
1 paper
NM_000277.3
p.V5delFs
c.13delC
1 paper
NM_000277.3
p.T3I
c.8C>T
6 papers
NM_000277.3
p.T3A
c.7A>G
4 papers
NM_000277.3
p.L6L
c.16C>T
1 paper
NM_000277.3
p.S2S
c.6C>T
1 paper
NM_000277.3
p.S2_T3insFs
c.6_7ins4
1 paper
NM_000277.3
p.S2_T3ins3
c.6_7ins9
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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."