Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P279L

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
2 papers
NM_000277.3
p.P279L
c.836C>T
Surrounding Variants
1 paper
NM_000277.3
p.P279P
c.837C>T
1 paper
NM_000277.3
p.E280*
c.838G>T
1 paper
NM_000277.3
p.E280Q
c.838G>C
185 papers
NM_000277.3
p.E280K
c.838G>A
3 papers
NM_000277.3
p.T278delFs
c.833delG
2 papers
NM_000277.3
p.E280fs
c.838_839fs
30 papers
NM_000277.3
p.T278I
c.833C>T
1 paper
NM_000277.3
p.T278S
c.833C>G
19 papers
NM_000277.3
p.T278N
c.833C>A
2 papers
NM_000277.3
p.K274_T278delFs
c.822_832del11
12 papers
NM_000277.3
p.E280G
c.839A>G
8 papers
NM_000277.3
p.E280A
c.839A>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."