Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R86H

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.R86H
c.257G>A
Surrounding Variants
6 papers
NM_000277.3
p.R86P
c.257G>C
2 papers
NM_000277.3
p.T81_R86delFs
c.241_256del16
1 paper
NM_000277.3
p.R86C
c.256C>T
20 papers
NM_000277.3
p.S87C
c.259A>T
33 papers
NM_000277.3
p.S87R
c.259A>C
33 papers
NM_000277.3
p.S87R
c.261C>G
1 paper
NM_000277.3
p.S87_L88insFs
c.261_262insA
35 papers
NM_000277.3
p.S87R
c.261C>A
3 papers
NM_000277.3
p.K85*
c.253A>T
1 paper
NM_000277.3
p.D84del1
c.250_251delATC
1 paper
NM_000277.3
p.D84delFs
c.251delT
2 papers
NM_000277.3
p.L88L
c.262C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."