Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H220_E221insFs

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.H220_E221insFs
c.660_661insG
Surrounding Variants
4 papers
NM_000277.3
p.H220del1
c.658_660delATG
6 papers
NM_000277.3
p.H220P
c.659A>C
1 paper
NM_000277.3
p.F219_H220del1
c.656_658delGGA
10 papers
NM_000277.3
p.E221G
c.662A>G
2 papers
NM_000277.3
p.E221D
c.663A>T
2 papers
NM_000277.3
p.E221D
c.663A>C
1 paper
NM_000277.3
p.E221fs
c.661_662fs
2 papers
NM_000277.3
p.F219S
c.656T>C
1 paper
NM_000277.3
p.D222H
c.664G>C
4 papers
NM_000277.3
p.D222V
c.665A>T
21 papers
NM_000277.3
p.D222G
c.665A>G
1 paper
NM_000277.3
p.D222A
c.665A>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."