Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q395H

ALDH5A1

250 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-h...

Pfam Domains

Aldedhaa 69–530UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 5 family member A1

HGNC Alias Symbols

SSADH; SSDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080.3
p.Q395H
c.1185G>T
Surrounding Variants
1 paper
NM_001080.3
p.Q395H
c.1185G>C
1 paper
NM_001080.3
p.V392fs
c.1174_1175fs
1 paper
NM_001080.3
p.A399A
c.1197C>A
1 paper
NM_001080.3
p.A399A
c.1197C>T
1 paper
NM_001080.3
p.K391_V392Splc
c.1174-2A>C
1 paper
NM_001080.3
p.K391_V392Splc
c.1174-9A>C
1 paper
NM_001080.3
p.K391_V392Splc
c.1174-9A>G
1 paper
NM_001080.3
p.A404P
c.1210G>C
2 papers
NM_001080.3
p.A404G
c.1211C>G
1 paper
NM_001080.3
p.T405insFs
c.1215dupC
1 paper
NM_001080.3
p.T405T
c.1215C>A
3 papers
NM_001080.3
p.V406I
c.1216G>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."