Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.R308C

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.R308C
c.922C>T
Surrounding Variants
1 paper
NM_000031.6
p.R308H
c.923G>A
1 paper
NM_000031.6
p.T305insFs
c.913_914insC
1 paper
NM_000031.6
p.V300_L301insFs
c.900_901insT
1 paper
NM_000031.6
p.V300I
c.898G>A
1 paper
NM_000031.6
p.A298P
c.892G>C
1 paper
NM_000031.6
p.L296insFs
c.887_888insA
2 papers
NM_000031.6
p.A293T
c.877G>A
2 papers
NM_000031.6
p.A289D
c.866C>A
1 paper
NM_000031.6
p.A289T
c.865G>A
2 papers
NM_000031.6
p.G311Splc
c.931+66T>C
1 paper
NM_000031.6
p.F282L
c.846T>G
1 paper
NM_000031.6
p.F282L
c.846T>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."