Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D145delFs

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.D145delFs
c.435delG
Surrounding Variants
5 papers
NM_000277.3
p.H146Y
c.436C>T
1 paper
NM_000277.3
p.H146_P147insTG
c.436_440ins6
15 papers
NM_000277.3
p.P147S
c.439C>T
16 papers
NM_000277.3
p.P147L
c.440C>T
1 paper
NM_000277.3
p.P147insFs
c.440_441insT
1 paper
NM_000277.3
p.P147H
c.440C>A
25 papers
NM_000277.3
p.D145V
c.434A>T
2 papers
NM_000277.3
p.P147P
c.441T>C
1 paper
NM_000277.3
p.A144insFs
c.432dupT
1 paper
NM_000277.3
p.D145H
c.433G>C
1 paper
NM_000277.3
p.D145N
c.433G>A
8 papers
NM_000277.3
p.P147_G148Splc
c.441+1G>C
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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."