Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.V55L

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.V55L
c.163G>T
Surrounding Variants
1 paper
NM_002108.4
p.V55L
c.163G>C
1 paper
NM_002108.4
p.R57Q
c.170G>A
1 paper
NM_002108.4
p.C58G
c.172T>G
1 paper
NM_002108.4
p.D50V
c.149A>T
1 paper
NM_002108.4
p.G60S
c.178G>A
1 paper
NM_002108.4
p.D50N
c.148G>A
2 papers
NM_002108.4
p.G60V
c.179G>T
1 paper
NM_002108.4
p.S47F
c.140C>T
1 paper
NM_002108.4
p.L64P
c.191T>C
1 paper
NM_002108.4
p.F45S
c.134T>C
1 paper
NM_002108.4
p.D65G
c.194A>G
1 paper
NM_002108.4
p.G44S
c.130G>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."