Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A313T

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
21 papers
NM_000277.3
p.A313T
c.937G>A
Surrounding Variants
1 paper
NM_000277.3
p.A313S
c.937G>T
1 paper
NM_000277.3
p.A313P
c.937G>C
2 papers
NM_000277.3
p.G312G
c.936T>C
3 papers
NM_000277.3
p.L311delFs
c.933delC
6 papers
NM_000277.3
p.A313V
c.938C>T
13 papers
NM_000277.3
p.G312V
c.935G>T
2 papers
NM_000277.3
p.G312D
c.935G>A
2 papers
NM_000277.3
p.P314fs
c.940_941fs
2 papers
NM_000277.3
p.G312C
c.934G>T
2 papers
NM_000277.3
p.G312R
c.934G>C
2 papers
NM_000277.3
p.G312S
c.934G>A
9 papers
NM_000277.3
p.P314S
c.940C>T
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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."