Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F410C

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
2 papers
NM_000277.3
p.F410C
c.1229T>G
Surrounding Variants
6 papers
NM_000277.3
p.F410S
c.1229T>C
2 papers
NM_000277.3
p.F410I
c.1228T>A
1 paper
NM_000277.3
p.P409L
c.1226C>T
8 papers
NM_000277.3
p.S411*
c.1232C>G
8 papers
NM_000277.3
p.S411*
c.1232C>A
1 paper
NM_000277.3
p.V412F
c.1234G>T
1 paper
NM_000277.3
p.R408R
c.1224G>A
2 papers
NM_000277.3
p.V412D
c.1235T>A
5 papers
NM_000277.3
p.R408L
c.1223G>T
189 papers
NM_000277.3
p.R408Q
c.1223G>A
490 papers
NM_000277.3
p.R408W
c.1222C>T
1 paper
NM_000277.3
p.R408G
c.1222C>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."