Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V423A

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
1 paper
NM_000277.3
p.V423A
c.1268T>C
Surrounding Variants
1 paper
NM_000277.3
p.V423F
c.1267G>T
1 paper
NM_000277.3
p.V423delFs
c.1269delG
2 papers
NM_000277.3
p.E422K
c.1264G>A
1 paper
NM_000277.3
p.D425Y
c.1273G>T
1 paper
NM_000277.3
p.D425H
c.1273G>C
1 paper
NM_000277.3
p.D425N
c.1273G>A
1 paper
NM_000277.3
p.I421S
c.1262T>G
19 papers
NM_000277.3
p.I421T
c.1262T>C
2 papers
NM_000277.3
p.D425V
c.1274A>T
1 paper
NM_000277.3
p.D425A
c.1274A>C
1 paper
NM_000277.3
p.D425E
c.1275C>G
1 paper
NM_000277.3
p.D425E
c.1275C>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."