Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q232R

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
1 paper
NM_000277.3
p.Q232R
c.695A>G
Surrounding Variants
1 paper
NM_000277.3
p.Q232P
c.695A>C
1 paper
NM_000277.3
p.Q232H
c.696G>T
1 paper
NM_000277.3
p.Q232H
c.696G>C
4 papers
NM_000277.3
p.Q232Q
c.696G>A
1 paper
NM_000277.3
p.Q232delins
c.694_696delinsTAA
26 papers
NM_000277.3
p.Q232*
c.694C>T
1 paper
NM_000277.3
p.Q232E
c.694C>G
11 papers
NM_000277.3
p.F233L
c.697T>C
2 papers
NM_000277.3
p.F233I
c.697T>A
1 paper
NM_000277.3
p.F233S
c.698T>C
11 papers
NM_000277.3
p.S231F
c.692C>T
2 papers
NM_000277.3
p.S231insFs
c.691_692insG
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."