Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G19_Q20insGV

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.G19_Q20insGV
c.55_59ins6
Surrounding Variants
1 paper
NM_000277.3
p.G19ins2
c.55_56ins6
1 paper
NM_000277.3
p.G19insFs
c.56_57insA
1 paper
NM_000277.3
p.Q20fs
c.58_59fs
15 papers
NM_000277.3
p.Q20*
c.58C>T
6 papers
NM_000277.3
p.D17E
c.51C>G
1 paper
NM_000277.3
p.D17E
c.51C>A
1 paper
NM_000277.3
p.K14_D17delFs
c.40_49del10
1 paper
NM_000277.3
p.Q20L
c.59A>T
6 papers
NM_000277.3
p.Q20P
c.59A>C
7 papers
NM_000277.3
p.Q20H
c.60G>T
9 papers
NM_000277.3
p.Q20H
c.60G>C
5 papers
NM_000277.3
p.Q20delins
c.59_60delinsCC
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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."