Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.L22insFs

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.L22insFs
c.64dupC
Surrounding Variants
1 paper
NM_002108.4
p.L22fs
c.64_65fs
1 paper
NM_002108.4
p.A20T
c.58G>A
1 paper
NM_002108.4
p.W26R
c.76T>A
1 paper
NM_002108.4
p.W26*
c.77G>A
1 paper
NM_002108.4
p.L27P
c.80T>C
1 paper
NM_002108.4
p.V15E
c.44T>A
1 paper
NM_002108.4
p.A31A
c.93C>A
1 paper
NM_002108.4
p.V32E
c.95T>A
1 paper
NM_002108.4
p.E11E
c.33A>G
1 paper
NM_002108.4
p.R33R
c.99G>A
1 paper
NM_002108.4
p.R34H
c.101G>A
1 paper
NM_002108.4
p.R9L
c.26G>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."