Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.T524T

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.T524T
c.1572C>A
Surrounding Variants
1 paper
NM_002108.4
p.T528M
c.1583C>T
1 paper
NM_002108.4
p.D520A
c.1559A>C
2 papers
NM_002108.4
p.V532I
c.1594G>A
1 paper
NM_002108.4
p.W537R
c.1609T>C
1 paper
NM_002108.4
p.V507A
c.1520T>C
1 paper
NM_002108.4
p.I546V
c.1636A>G
2 papers
NM_002108.4
p.V549M
c.1645G>A
1 paper
NM_002108.4
p.C561C
c.1683C>T
1 paper
NM_002108.4
p.P569L
c.1706C>T
1 paper
NM_002108.4
p.K578N
c.1734G>T
1 paper
NM_002108.4
p.K578N
c.1734G>C
1 paper
NM_002108.4
p.E565_V579del15
c.1693_1736del45
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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."