Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G312S

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.G312S
c.934G>A
Surrounding Variants
2 papers
NM_000277.3
p.G312C
c.934G>T
2 papers
NM_000277.3
p.G312R
c.934G>C
13 papers
NM_000277.3
p.G312V
c.935G>T
1 paper
NM_000277.3
p.L311L
c.933G>C
2 papers
NM_000277.3
p.G312D
c.935G>A
1 paper
NM_000277.3
p.L311delFs
c.931_932delAG
2 papers
NM_000277.3
p.L311R
c.932T>G
54 papers
NM_000277.3
p.L311P
c.932T>C
2 papers
NM_000277.3
p.G312G
c.936T>C
3 papers
NM_000277.3
p.L311delFs
c.933delC
1 paper
NM_000277.3
p.A313S
c.937G>T
1 paper
NM_000277.3
p.A313P
c.937G>C
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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."