Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.P91T

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.P91T
c.271C>A
Surrounding Variants
1 paper
NM_002108.4
p.D92H
c.274G>C
1 paper
NM_002108.4
p.F93L
c.279C>A
2 papers
NM_002108.4
p.D87N
c.259G>A
1 paper
NM_002108.4
p.S96A
c.286T>G
1 paper
NM_002108.4
p.S96P
c.286T>C
1 paper
NM_002108.4
p.S96F
c.287C>T
1 paper
NM_002108.4
p.Q97E
c.289C>G
1 paper
NM_002108.4
p.V83D
c.248T>A
1 paper
NM_002108.4
p.E99K
c.295G>A
1 paper
NM_002108.4
p.V101I
c.301G>A
1 paper
NM_002108.4
p.L103Splc
c.308+1G>A
1 paper
NM_002108.4
p.L103Splc
c.309-1G>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."