Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L430R

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.L430R
c.1289T>G
Surrounding Variants
19 papers
NM_000277.3
p.L430P
c.1289T>C
1 paper
NM_000277.3
p.K431N
c.1293G>T
1 paper
NM_000277.3
p.K431N
c.1293G>C
2 papers
NM_000277.3
p.Q429*
c.1285C>T
6 papers
NM_000277.3
p.Q429K
c.1285C>A
2 papers
NM_000277.3
p.I432L
c.1294A>C
2 papers
NM_000277.3
p.Q428*
c.1282C>T
1 paper
NM_000277.3
p.Q428E
c.1282C>G
1 paper
NM_000277.3
p.T427A
c.1279A>G
4 papers
NM_000277.3
p.T427P
c.1279A>C
1 paper
NM_000277.3
p.N426N
c.1278T>C
1 paper
NM_000277.3
p.A434S
c.1300G>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."