Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.S526F

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.S526F
c.1577C>T
Surrounding Variants
1 paper
NM_003748.4
p.G521_G522insFs
c.1563_1564insT
9 papers
NM_003748.4
p.G521fs
c.1561_1562fs
1 paper
NM_003748.4
p.G521A
c.1562G>C
2 papers
NM_003748.4
p.G502D
c.1505G>A
1 paper
NM_003748.4
p.G502S
c.1504G>A
1 paper
NM_003748.4
p.S484F
c.1451C>T
1 paper
NM_003748.4
p.Y476F
c.1427A>T
2 papers
NM_003748.4
p.T473A
c.1417A>G
3 papers
NM_003748.4
p.V470I
c.1408G>A
1 paper
NM_003748.4
p.T466M
c.1397C>T
1 paper
NM_003748.4
p.D460_D461del2
c.1378_1382del6
1 paper
NM_003748.4
p.D460D
c.1380T>C
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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."