Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K42I

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
14 papers
NM_000277.3
p.K42I
c.125A>T
Surrounding Variants
1 paper
NM_000277.3
p.K42R
c.125A>G
3 papers
NM_000277.3
p.K42E
c.124A>G
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.L41P
c.122T>C
2 papers
NM_000277.3
p.I35_E43del0
c.104_127del24
14 papers
NM_000277.3
p.L41F
c.121C>T
1 paper
NM_000277.3
p.F39_S40del2
c.115_119del6
1 paper
NM_000277.3
p.E44Q
c.130G>C
1 paper
NM_000277.3
p.K42_E43delFs
c.126_129del4
3 papers
NM_000277.3
p.S40L
c.119C>T
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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."