Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.L134I

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.L134I
c.400C>A
Surrounding Variants
11 papers
NM_000031.6
p.G133R
c.397G>C
11 papers
NM_000031.6
p.G133R
c.397G>A
1 paper
NM_000031.6
p.L135delFs
c.403delG
1 paper
NM_000031.6
p.N138N
c.414C>T
1 paper
NM_000031.6
p.G139R
c.415G>C
1 paper
NM_000031.6
p.G139R
c.415G>A
1 paper
NM_000031.6
p.G139_A140insFs
c.417_418insCA
1 paper
NM_000031.6
p.R142W
c.424C>T
1 paper
NM_000031.6
p.R147L
c.440G>T
1 paper
NM_000031.6
p.R147R
c.441C>T
1 paper
NM_000031.6
p.R147delins
c.440_441delinsTT
1 paper
NM_000031.6
p.R147delFs
c.439_440delCG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."