Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S310F

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
22 papers
NM_000277.3
p.S310F
c.929C>T
Surrounding Variants
3 papers
NM_000277.3
p.S310C
c.929C>G
7 papers
NM_000277.3
p.S310Y
c.929C>A
1 paper
NM_000277.3
p.S310P
c.928T>C
1 paper
NM_000277.3
p.L311fs
c.931_932fs
2 papers
NM_000277.3
p.L311R
c.932T>G
54 papers
NM_000277.3
p.L311P
c.932T>C
49 papers
NM_000277.3
p.A309V
c.926C>T
1 paper
NM_000277.3
p.A309G
c.926C>G
21 papers
NM_000277.3
p.A309D
c.926C>A
1 paper
NM_000277.3
p.L311L
c.933G>C
1 paper
NM_000277.3
p.A309T
c.925G>A
1 paper
NM_000277.3
p.L311delFs
c.931_932delAG
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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."