Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K341*

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.K341*
c.1021A>T
Surrounding Variants
1 paper
NM_000277.3
p.K341R
c.1022A>G
2 papers
NM_000277.3
p.K341T
c.1022A>C
3 papers
NM_000277.3
p.I340T
c.1019T>C
2 papers
NM_000277.3
p.K341N
c.1023G>T
3 papers
NM_000277.3
p.K341N
c.1023G>C
2 papers
NM_000277.3
p.A342S
c.1024G>T
4 papers
NM_000277.3
p.A342P
c.1024G>C
17 papers
NM_000277.3
p.A342T
c.1024G>A
1 paper
NM_000277.3
p.I340V
c.1018A>G
5 papers
NM_000277.3
p.A342fs
c.1024_1025fs
10 papers
NM_000277.3
p.K341delFs
c.1023delC
2 papers
NM_000277.3
p.S339F
c.1016C>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."