Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A104V

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
7 papers
NM_000277.3
p.A104V
c.311C>T
Surrounding Variants
1 paper
NM_000277.3
p.G103_A104ins0
c.308_310dupGTG
93 papers
NM_000277.3
p.A104D
c.311C>A
21 papers
NM_000277.3
p.T105S
c.313A>T
5 papers
NM_000277.3
p.G103D
c.308G>A
1 paper
NM_000277.3
p.T105delFs
c.314delG
3 papers
NM_000277.3
p.G103C
c.307G>T
1 paper
NM_000277.3
p.G103R
c.307G>C
6 papers
NM_000277.3
p.G103S
c.307G>A
2 papers
NM_000277.3
p.V106I
c.316G>A
25 papers
NM_000277.3
p.V106A
c.317T>C
4 papers
NM_000277.3
p.I102T
c.305T>C
1 paper
NM_000277.3
p.I102N
c.305T>A
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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."