Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.H500Y

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.H500Y
c.1498C>T
Surrounding Variants
1 paper
NM_002108.4
p.G491V
c.1472G>T
1 paper
NM_002108.4
p.L479F
c.1435C>T
2 papers
NM_002108.4
p.C475Y
c.1424G>A
1 paper
NM_002108.4
p.R469del1
c.1405_1407delTCT
1 paper
NM_002108.4
p.G459V
c.1376G>T
1 paper
NM_002108.4
p.D454N
c.1360G>A
1 paper
NM_002108.4
p.G446S
c.1336G>A
1 paper
NM_002108.4
p.V439I
c.1315G>A
1 paper
NM_002108.4
p.E437K
c.1309G>A
1 paper
NM_002108.4
p.V507A
c.1520T>C
1 paper
NM_002108.4
p.D520A
c.1559A>C
1 paper
NM_002108.4
p.T524T
c.1572C>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."