Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.H268Q

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
Selected Variant
1 paper
NM_000031.6
p.H268Q
c.804C>A
Surrounding Variants
1 paper
NM_000031.6
p.H268Q
c.804C>G
2 papers
NM_000031.6
p.L273R
c.818T>G
10 papers
NM_000031.6
p.A274T
c.820G>A
1 paper
NM_000031.6
p.L273delFs
c.818_819delGA
1 paper
NM_000031.6
p.V275L
c.823G>T
1 paper
NM_000031.6
p.V275L
c.823G>C
10 papers
NM_000031.6
p.V275M
c.823G>A
1 paper
NM_000031.6
p.V278I
c.832G>A
1 paper
NM_000031.6
p.G280R
c.838G>C
1 paper
NM_000031.6
p.G280R
c.838G>A
2 papers
NM_000031.6
p.G280E
c.839G>A
1 paper
NM_000031.6
p.F282L
c.844T>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."