Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R111*

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
178 papers
NM_000277.3
p.R111*
c.331C>T
Surrounding Variants
3 papers
NM_000277.3
p.R111_D112insG
c.331_335ins3
3 papers
NM_000277.3
p.R111Q
c.332G>A
12 papers
NM_000277.3
p.S110L
c.329C>T
3 papers
NM_000277.3
p.S110T
c.328T>A
3 papers
NM_000277.3
p.D112fs
c.334_335fs
3 papers
NM_000277.3
p.D112H
c.334G>C
1 paper
NM_000277.3
p.D112N
c.334G>A
1 paper
NM_000277.3
p.T105_L109delFs
c.313_326del14
5 papers
NM_000277.3
p.D112insFs
c.335dupA
1 paper
NM_000277.3
p.L109I
c.325C>A
2 papers
NM_000277.3
p.K113R
c.338A>G
1 paper
NM_000277.3
p.K113insFs
c.338dupA
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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."