Varaico: Literature-Extracted Genetic Variants

Gene:HAL

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
1–12 of 187 variants
3 papers
NM_002108.4
p.P429_M430Splc
c.1287+2T>C
2 papers
NM_002108.4
p.M1T
c.2T>C
2 papers
NM_002108.4
p.G60V
c.179G>T
2 papers
NM_002108.4
p.D87N
c.259G>A
2 papers
NM_002108.4
p.G197C
c.589G>T
2 papers
NM_002108.4
p.P259P
c.777A>G
2 papers
NM_002108.4
p.R322Q
c.965G>A
2 papers
NM_002108.4
p.R328W
c.982C>T
2 papers
NM_002108.4
p.C475Y
c.1424G>A
2 papers
NM_002108.4
p.H500Y
c.1498C>T
2 papers
NM_002108.4
p.V532I
c.1594G>A
2 papers
NM_002108.4
p.V549M
c.1645G>A
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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."