Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I35V

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
3 papers
NM_000277.3
p.I35V
c.103A>G
Surrounding Variants
2 papers
NM_000277.3
p.A34V
c.101C>T
1 paper
NM_000277.3
p.A34T
c.100G>A
1 paper
NM_000277.3
p.S36L
c.107C>T
3 papers
NM_000277.3
p.S36*
c.107C>G
3 papers
NM_000277.3
p.S36*
c.107C>A
2 papers
NM_000277.3
p.G33V
c.98G>T
2 papers
NM_000277.3
p.G33A
c.98G>C
3 papers
NM_000277.3
p.G33S
c.97G>A
1 paper
NM_000277.3
p.N32delFs
c.95_96delAT
1 paper
NM_000277.3
p.N32K
c.96T>G
1 paper
NM_000277.3
p.L37P
c.110T>C
1 paper
NM_000277.3
p.N32K
c.96T>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."