Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.C132R

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
8 papers
NM_000031.6
p.C132R
c.394T>C
Surrounding Variants
4 papers
NM_000031.6
p.G133R
c.397G>A
1 paper
NM_000031.6
p.H131D
c.391C>G
1 paper
NM_000031.6
p.G130V
c.389G>T
1 paper
NM_000031.6
p.L123Q
c.368T>A
1 paper
NM_000031.6
p.L116L
c.346C>T
1 paper
NM_000031.6
p.L115H
c.344T>A
1 paper
NM_000031.6
p.L108F
c.324G>T
1 paper
NM_000031.6
p.L108F
c.324G>C
1 paper
NM_000031.6
p.I105insFs
c.314_315insC
1 paper
NM_000031.6
p.I105V
c.313A>G
2 papers
NM_000031.6
p.A104V
c.311C>T
1 paper
NM_000031.6
p.A104T
c.310G>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."