Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L136insFs

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.L136insFs
c.406_407insT
Surrounding Variants
1 paper
NM_000277.3
p.I135delFs
c.404delA
1 paper
NM_000277.3
p.Q134Q
c.402G>A
6 papers
NM_000277.3
p.N133_Q134delFs
c.398_401del4
1 paper
NM_000277.3
p.S137R
c.411C>G
1 paper
NM_000277.3
p.Q134delFs
c.400delG
1 paper
NM_000277.3
p.Q134*
c.400C>T
2 papers
NM_000277.3
p.N133delFs
c.399delA
1 paper
NM_000277.3
p.F131_N133del3
c.391_398del9
1 paper
NM_000277.3
p.N133_Q134insFs
c.399_400insA
3 papers
NM_000277.3
p.Y138F
c.413A>T
1 paper
NM_000277.3
p.Y138insFs
c.413dupA
1 paper
NM_000277.3
p.Y138*
c.414T>G
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."