Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.S352A

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.S352A
c.1054T>G
Surrounding Variants
20 papers
NM_003748.4
p.S352L
c.1055C>T
1 paper
NM_003748.4
p.A350fs
c.1048_1049fs
2 papers
NM_003748.4
p.A350A
c.1050G>C
1 paper
NM_003748.4
p.A350T
c.1048G>A
1 paper
NM_003748.4
p.P357L
c.1070C>T
1 paper
NM_003748.4
p.I364_K365insFs
c.1092_1093insG
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.R367W
c.1099C>T
2 papers
NM_003748.4
p.S334I
c.1001G>T
1 paper
NM_003748.4
p.V332M
c.994G>A
1 paper
NM_003748.4
p.E330G
c.989A>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."