Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.V153delFs

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.V153delFs
c.458delA
Surrounding Variants
8 papers
NM_000031.6
p.V153M
c.457G>A
1 paper
NM_000031.6
p.V153fs
c.457_458fs
1 paper
NM_000031.6
p.E152K
c.454G>A
1 paper
NM_000031.6
p.L150L
c.448C>T
1 paper
NM_000031.6
p.Y157insFs
c.470_471insA
1 paper
NM_000031.6
p.R149L
c.446G>T
2 papers
NM_000031.6
p.R149Q
c.446G>A
1 paper
NM_000031.6
p.Q148R
c.443A>G
1 paper
NM_000031.6
p.R147delFs
c.439_440delCG
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.R147L
c.440G>T
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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."