Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F121L

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
9 papers
NM_000277.3
p.F121L
c.361T>C
Surrounding Variants
1 paper
NM_000277.3
p.F121V
c.361T>G
2 papers
NM_000277.3
p.W120delFs
c.360delC
1 paper
NM_000277.3
p.W120fs
c.358_359fs
3 papers
NM_000277.3
p.W120*
c.360G>A
3 papers
NM_000277.3
p.W120*
c.359G>A
2 papers
NM_000277.3
p.W120delFs
c.358delA
1 paper
NM_000277.3
p.F121F
c.363C>T
9 papers
NM_000277.3
p.F121L
c.363C>G
9 papers
NM_000277.3
p.F121L
c.363C>A
5 papers
NM_000277.3
p.P122S
c.364C>T
1 paper
NM_000277.3
p.W120_F121delFs
c.360_363del4
3 papers
NM_000277.3
p.P119P
c.357C>G
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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."