Varaico: Literature-Extracted Genetic Variants

Gene:ALAD

ALAD

146 papers

RefSeq Summary

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoprote...

Pfam Domains

ALADaa 5–326UCSCDelta-aminolevulinic acid dehydratase

Gene Aliases

HGNC Name

aminolevulinate dehydratase

HGNC Alias Symbols

ALADH; PBGS

Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
53 papers
NM_000031.6
p.K59N
c.177G>C
29 papers
NM_000031.6
p.K59N
c.177G>T
19 papers
NM_000031.6
p.F12L
c.36C>G
18 papers
NM_000031.6
p.F12L
c.34T>C
18 papers
NM_000031.6
p.F12L
c.36C>A
11 papers
NM_000031.6
p.G133R
c.397G>C
11 papers
NM_000031.6
p.G133R
c.397G>A
10 papers
NM_000031.6
p.A274T
c.820G>A
10 papers
NM_000031.6
p.V275M
c.823G>A
9 papers
NM_000031.6
p.R240W
c.718C>T
8 papers
NM_000031.6
p.E89K
c.265G>A
8 papers
NM_000031.6
p.C132R
c.394T>C
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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."