Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A49A

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.A49A
c.147C>T
Surrounding Variants
7 papers
NM_000277.3
p.A47_L48del2
c.139_143del6
1 paper
NM_000277.3
p.A49insFs
c.146_147insTG
2 papers
NM_000277.3
p.K50E
c.148A>G
1 paper
NM_000277.3
p.A49delFs
c.146delG
1 paper
NM_000277.3
p.S40_A49del10
c.118_146del30
1 paper
NM_000277.3
p.K50R
c.149A>G
1 paper
NM_000277.3
p.L48insFs
c.143dupT
215 papers
NM_000277.3
p.L48S
c.143T>C
2 papers
NM_000277.3
p.V51L
c.151G>T
3 papers
NM_000277.3
p.V51L
c.151G>C
1 paper
NM_000277.3
p.V51I
c.151G>A
1 paper
NM_000277.3
p.K50delFs
c.150delT
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