Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.F12L

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
18 papers
NM_000031.6
p.F12L
c.36C>A
Surrounding Variants
1 paper
NM_000031.6
p.F12F
c.36C>T
19 papers
NM_000031.6
p.F12L
c.36C>G
1 paper
NM_000031.6
p.F12S
c.35T>C
18 papers
NM_000031.6
p.F12L
c.34T>C
1 paper
NM_000031.6
p.G10S
c.28G>A
1 paper
NM_000031.6
p.G10fs
c.28_29fs
2 papers
NM_000031.6
p.L16L
c.48T>C
1 paper
NM_000031.6
p.R17W
c.49C>T
1 paper
NM_000031.6
p.R17Q
c.50G>A
1 paper
NM_000031.6
p.L7delFs
c.21delC
1 paper
NM_000031.6
p.Q20Q
c.60G>A
1 paper
NM_000031.6
p.Q4*
c.10C>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."