Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A403V

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
194 papers
NM_000277.3
p.A403V
c.1208C>T
Surrounding Variants
2 papers
NM_000277.3
p.A403D
c.1208C>A
2 papers
NM_000277.3
p.F402L
c.1206T>G
2 papers
NM_000277.3
p.F402L
c.1206T>A
1 paper
NM_000277.3
p.A404T
c.1210G>A
2 papers
NM_000277.3
p.F402C
c.1205T>G
2 papers
NM_000277.3
p.F402L
c.1204T>C
2 papers
NM_000277.3
p.F402I
c.1204T>A
1 paper
NM_000277.3
p.N401D
c.1201A>G
1 paper
NM_000277.3
p.T405fs
c.1213_1214fs
2 papers
NM_000277.3
p.R400S
c.1200G>T
2 papers
NM_000277.3
p.R400S
c.1200G>C
4 papers
NM_000277.3
p.I406V
c.1216A>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."