Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.Y257_L258insFs

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.Y257_L258insFs
c.771_772insT
Surrounding Variants
1 paper
NM_000031.6
p.D259N
c.775G>A
1 paper
NM_000031.6
p.P256insFs
c.767_768insT
1 paper
NM_000031.6
p.P256fs
c.766_767fs
1 paper
NM_000031.6
p.I260I
c.780C>T
1 paper
NM_000031.6
p.G254R
c.760G>C
1 paper
NM_000031.6
p.G254R
c.760G>A
1 paper
NM_000031.6
p.P253P
c.759G>A
1 paper
NM_000031.6
p.E263K
c.787G>A
1 paper
NM_000031.6
p.K252M
c.755A>T
1 paper
NM_000031.6
p.M250V
c.748A>G
2 papers
NM_000031.6
p.V242I
c.724G>A
1 paper
NM_000031.6
p.R240Q
c.719G>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."