Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.R10G

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.R10G
c.28C>G
Surrounding Variants
1 paper
NM_003748.4
p.R10del1
c.28_29delGCG
1 paper
NM_003748.4
p.A7delFs
c.21delC
5 papers
NM_003748.4
p.A7fs
c.19_20fs
1 paper
NM_003748.4
p.A7T
c.19G>A
1 paper
NM_003748.4
p.S14Fs
c.42delinsGGGGGGFs
2 papers
NM_003748.4
p.R15S
c.43C>A
7 papers
NM_003748.4
p.P16L
c.47C>T
1 paper
NM_003748.4
p.L2P
c.5T>C
1 paper
NM_003748.4
p.L2L
c.4C>T
1 paper
NM_003748.4
p.T18T
c.54C>A
1 paper
NM_003748.4
p.G21Splc
c.62+1G>A
1 paper
NM_003748.4
p.G21Splc
c.62+2T>G
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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."