Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K42_E43delFs

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.K42_E43delFs
c.126_129del4
Surrounding Variants
1 paper
NM_000277.3
p.E44Q
c.130G>C
1 paper
NM_000277.3
p.E44A
c.131A>C
2 papers
NM_000277.3
p.I35_E43del0
c.104_127del24
1 paper
NM_000277.3
p.E43*
c.127G>T
1 paper
NM_000277.3
p.E43_E44insAG
c.127_131ins6
1 paper
NM_000277.3
p.E43K
c.127G>A
3 papers
NM_000277.3
p.V45A
c.134T>C
4 papers
NM_000277.3
p.E44del1
c.130_131delTTC
14 papers
NM_000277.3
p.K42I
c.125A>T
1 paper
NM_000277.3
p.K42R
c.125A>G
2 papers
NM_000277.3
p.G46R
c.136G>C
69 papers
NM_000277.3
p.G46S
c.136G>A
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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."