Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.S254R

HAL

340 papers

RefSeq Summary

Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects...

Pfam Domains

Lyase_aromaticaa 121–585UCSCAromatic amino acid lyase

Gene Aliases

HGNC Name

histidine ammonia-lyase

HGNC Previous Symbol

HIS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002108.4
p.S254R
c.762T>A
Surrounding Variants
1 paper
NM_002108.4
p.S254R
c.762T>G
1 paper
NM_002108.4
p.S254R
c.760A>C
1 paper
NM_002108.4
p.A253A
c.759C>T
1 paper
NM_002108.4
p.L257V
c.769C>G
1 paper
NM_002108.4
p.L257R
c.770T>G
1 paper
NM_002108.4
p.P259L
c.776C>T
2 papers
NM_002108.4
p.P259P
c.777A>G
1 paper
NM_002108.4
p.G249R
c.745G>C
1 paper
NM_002108.4
p.G249R
c.745G>A
1 paper
NM_002108.4
p.L265P
c.794T>C
1 paper
NM_002108.4
p.E270G
c.809A>G
1 paper
NM_002108.4
p.E270A
c.809A>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."