Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.A335D

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.A335D
c.1004C>A
Surrounding Variants
1 paper
NM_002108.4
p.I332T
c.995T>C
1 paper
NM_002108.4
p.I332V
c.994A>G
2 papers
NM_002108.4
p.R328W
c.982C>T
1 paper
NM_002108.4
p.G343V
c.1028G>T
1 paper
NM_002108.4
p.A323D
c.968C>A
1 paper
NM_002108.4
p.R322P
c.965G>C
2 papers
NM_002108.4
p.R322Q
c.965G>A
1 paper
NM_002108.4
p.R322*
c.964C>T
1 paper
NM_002108.4
p.D351H
c.1051G>C
1 paper
NM_002108.4
p.G316A
c.947G>C
1 paper
NM_002108.4
p.S314P
c.940T>C
1 paper
NM_002108.4
p.M311L
c.931A>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."