Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S231fs

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.S231fs
c.691_692fs
Surrounding Variants
2 papers
NM_000277.3
p.S231insFs
c.691_692insG
1 paper
NM_000277.3
p.S231A
c.691T>G
27 papers
NM_000277.3
p.S231P
c.691T>C
1 paper
NM_000277.3
p.V230_S231insFs
c.690_691insG
11 papers
NM_000277.3
p.S231F
c.692C>T
14 papers
NM_000277.3
p.V230A
c.689T>C
99 papers
NM_000277.3
p.V230I
c.688G>A
26 papers
NM_000277.3
p.Q232*
c.694C>T
1 paper
NM_000277.3
p.Q232E
c.694C>G
1 paper
NM_000277.3
p.D229insFs
c.686_687insA
1 paper
NM_000277.3
p.Q232R
c.695A>G
1 paper
NM_000277.3
p.Q232P
c.695A>C
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."