Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.L110L

ALDH4A1

141 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation path...

Pfam Domains

Aldedhaa 74–547UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 4 family member A1

HGNC Previous Symbol

ALDH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003748.4
p.L110L
c.328C>T
Surrounding Variants
1 paper
NM_003748.4
p.A105A
c.315C>A
1 paper
NM_003748.4
p.E115A
c.344A>C
1 paper
NM_003748.4
p.W116L
c.347G>T
1 paper
NM_003748.4
p.D117H
c.349G>C
1 paper
NM_003748.4
p.D117V
c.350A>T
1 paper
NM_003748.4
p.L118M
c.352C>A
1 paper
NM_003748.4
p.K99_S100Splc
c.298-1G>C
1 paper
NM_003748.4
p.P120H
c.359C>A
1 paper
NM_003748.4
p.I121_R124insFs
c.363_370dup8
1 paper
NM_003748.4
p.I127M
c.381C>G
1 paper
NM_003748.4
p.G137V
c.410G>T
4 papers
NM_003748.4
p.P138L
c.413C>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."