Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E370G

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.E370G
c.1109A>G
Surrounding Variants
1 paper
NM_000277.3
p.E370A
c.1109A>C
1 paper
NM_000277.3
p.E370D
c.1110G>T
1 paper
NM_000277.3
p.E370D
c.1110G>C
1 paper
NM_000277.3
p.E370K
c.1108G>A
3 papers
NM_000277.3
p.E370fs
c.1108_1109fs
1 paper
NM_000277.3
p.L369_E370insFs
c.1107_1108ins4
1 paper
NM_000277.3
p.K371E
c.1111A>G
1 paper
NM_000277.3
p.L369insFs
c.1106_1107ins4
3 papers
NM_000277.3
p.K371R
c.1112A>G
1 paper
NM_000277.3
p.K371delFs
c.1112delT
2 papers
NM_000277.3
p.L369V
c.1105C>G
17 papers
NM_000277.3
p.T372S
c.1114A>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."