Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.H406_A407delins

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.H406_A407delins
c.1218_1221delinsTGCG
Surrounding Variants
2 papers
NM_003748.4
p.A407A
c.1221A>G
1 paper
NM_003748.4
p.E405_A407delFs
c.1215_1219del5
1 paper
NM_003748.4
p.A407T
c.1219G>A
2 papers
NM_003748.4
p.S410S
c.1230A>G
1 paper
NM_003748.4
p.K402T
c.1205A>C
1 paper
NM_003748.4
p.R399P
c.1196G>C
1 paper
NM_003748.4
p.A417A
c.1251C>T
1 paper
NM_003748.4
p.G418R
c.1252G>C
1 paper
NM_003748.4
p.G418R
c.1252G>A
1 paper
NM_003748.4
p.G418A
c.1253G>C
1 paper
NM_003748.4
p.C421R
c.1261T>C
1 paper
NM_003748.4
p.S424Y
c.1271C>A
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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."