Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.G60V

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
2 papers
NM_002108.4
p.G60V
c.179G>T
Surrounding Variants
1 paper
NM_002108.4
p.G60S
c.178G>A
1 paper
NM_002108.4
p.C58G
c.172T>G
1 paper
NM_002108.4
p.R57Q
c.170G>A
1 paper
NM_002108.4
p.L64P
c.191T>C
1 paper
NM_002108.4
p.D65G
c.194A>G
1 paper
NM_002108.4
p.V55L
c.163G>T
1 paper
NM_002108.4
p.V55L
c.163G>C
1 paper
NM_002108.4
p.N66Y
c.196A>T
1 paper
NM_002108.4
p.N66K
c.198C>A
1 paper
NM_002108.4
p.E67Q
c.199G>C
1 paper
NM_002108.4
p.D65_E67insFs
c.193_200dup8
1 paper
NM_002108.4
p.L70R
c.209T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."