Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.H7Y

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.H7Y
c.19C>T
Surrounding Variants
1 paper
NM_002108.4
p.V6V
c.18G>A
1 paper
NM_002108.4
p.V6G
c.17T>G
1 paper
NM_002108.4
p.H7Q
c.21C>G
1 paper
NM_002108.4
p.V8A
c.23T>C
1 paper
NM_002108.4
p.T5T
c.15G>A
1 paper
NM_002108.4
p.T5S
c.13A>T
1 paper
NM_002108.4
p.R9L
c.26G>T
1 paper
NM_002108.4
p.E11E
c.33A>G
2 papers
NM_002108.4
p.M1T
c.2T>C
1 paper
NM_002108.4
p.V15E
c.44T>A
1 paper
NM_002108.4
p.A20T
c.58G>A
1 paper
NM_002108.4
p.L22insFs
c.64dupC
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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."