Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.R214K

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.R214K
c.641G>A
Surrounding Variants
1 paper
NM_002108.4
p.R208L
c.623G>T
1 paper
NM_002108.4
p.G221A
c.662G>C
1 paper
NM_002108.4
p.G221G
c.663A>G
1 paper
NM_002108.4
p.R206T
c.617G>C
1 paper
NM_002108.4
p.E205A
c.614A>C
1 paper
NM_002108.4
p.G199R
c.595G>C
1 paper
NM_002108.4
p.G199R
c.595G>A
2 papers
NM_002108.4
p.G197C
c.589G>T
1 paper
NM_002108.4
p.E235Q
c.703G>C
1 paper
NM_002108.4
p.E235A
c.704A>C
1 paper
NM_002108.4
p.N238S
c.713A>G
1 paper
NM_002108.4
p.A239Splc
c.715+1G>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."