Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I406M

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
8 papers
NM_000277.3
p.I406M
c.1218A>G
Surrounding Variants
3 papers
NM_000277.3
p.I406R
c.1217T>G
9 papers
NM_000277.3
p.I406T
c.1217T>C
27 papers
NM_000277.3
p.P407S
c.1219C>T
3 papers
NM_000277.3
p.P407L
c.1220C>T
4 papers
NM_000277.3
p.T405_P407delFs
c.1215_1219del5
4 papers
NM_000277.3
p.I406V
c.1216A>G
2 papers
NM_000277.3
p.I406fs
c.1216_1217fs
6 papers
NM_000277.3
p.P407fs
c.1219_1220fs
1 paper
NM_000277.3
p.P407P
c.1221T>G
1 paper
NM_000277.3
p.P407delFs
c.1220delG
1 paper
NM_000277.3
p.T405fs
c.1213_1214fs
490 papers
NM_000277.3
p.R408W
c.1222C>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."