Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L54_F55delFs

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.L54_F55delFs
c.160_163del4
Surrounding Variants
6 papers
NM_000277.3
p.E56K
c.166G>A
48 papers
NM_000277.3
p.F55delFs
c.165delA
4 papers
NM_000277.3
p.F55del1
c.163_164delAAA
20 papers
NM_000277.3
p.F55fs
c.163_164fs
41 papers
NM_000277.3
p.F55L
c.165T>G
34 papers
NM_000277.3
p.F55L
c.165T>A
1 paper
NM_000277.3
p.F55insFs
c.164_165insA
2 papers
NM_000277.3
p.F55S
c.164T>C
18 papers
NM_000277.3
p.E56D
c.168G>T
17 papers
NM_000277.3
p.E56D
c.168G>C
2 papers
NM_000277.3
p.E56E
c.168G>A
1 paper
NM_000277.3
p.F55insFs
c.163_164ins4
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."