Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.F388L

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
3 papers
NM_003748.4
p.F388L
c.1164C>A
Surrounding Variants
3 papers
NM_003748.4
p.F388L
c.1164C>G
3 papers
NM_003748.4
p.F388L
c.1162T>C
1 paper
NM_003748.4
p.A390T
c.1168G>A
1 paper
NM_003748.4
p.I392_D393del1
c.1176_1178delTCA
1 paper
NM_003748.4
p.D379_P380Splc
c.1138-20G>A
1 paper
NM_003748.4
p.D379D
c.1137C>T
1 paper
NM_003748.4
p.R367W
c.1099C>T
2 papers
NM_003748.4
p.G366R
c.1096G>C
2 papers
NM_003748.4
p.G366R
c.1096G>A
1 paper
NM_003748.4
p.I364_K365insFs
c.1092_1093insG
1 paper
NM_003748.4
p.P357L
c.1070C>T
20 papers
NM_003748.4
p.S352L
c.1055C>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."