Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.P429_M430Splc

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
3 papers
NM_002108.4
p.P429_M430Splc
c.1287+2T>C
Surrounding Variants
1 paper
NM_002108.4
p.T420A
c.1258A>G
1 paper
NM_002108.4
p.T410A
c.1228A>G
1 paper
NM_002108.4
p.Q402P
c.1205A>C
1 paper
NM_002108.4
p.L397L
c.1189T>C
1 paper
NM_002108.4
p.R390H
c.1169G>A
1 paper
NM_002108.4
p.E380K
c.1138G>A
1 paper
NM_002108.4
p.R367W
c.1099C>T
1 paper
NM_002108.4
p.F366L
c.1098T>G
1 paper
NM_002108.4
p.F366L
c.1098T>A
1 paper
NM_002108.4
p.F366L
c.1096T>C
1 paper
NM_002108.4
p.A365A
c.1095T>C
1 paper
NM_002108.4
p.E363_V364del2
c.1087_1091del6
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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."