Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S87R

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
33 papers
NM_000277.3
p.S87R
c.261C>G
Surrounding Variants
1 paper
NM_000277.3
p.S87_L88insFs
c.261_262insA
35 papers
NM_000277.3
p.S87R
c.261C>A
2 papers
NM_000277.3
p.L88L
c.262C>T
1 paper
NM_000277.3
p.L88M
c.262C>A
1 paper
NM_000277.3
p.L88delFs
c.262delG
20 papers
NM_000277.3
p.S87C
c.259A>T
33 papers
NM_000277.3
p.S87R
c.259A>C
1 paper
NM_000277.3
p.L88_P89insFs
c.264_265insC
1 paper
NM_000277.3
p.L88L
c.264G>C
6 papers
NM_000277.3
p.R86P
c.257G>C
2 papers
NM_000277.3
p.R86H
c.257G>A
2 papers
NM_000277.3
p.T81_R86delFs
c.241_256del16
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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."