Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q193R

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.Q193R
c.578A>G
Surrounding Variants
1 paper
NM_001080.3
p.Q193*
c.577C>T
2 papers
NM_001080.3
p.P194L
c.581C>T
3 papers
NM_001080.3
p.K192*
c.574A>T
2 papers
NM_001080.3
p.I195V
c.583A>G
9 papers
NM_001080.3
p.G196D
c.587G>A
1 paper
NM_001080.3
p.G196G
c.588C>A
1 paper
NM_001080.3
p.G196G
c.588C>T
1 paper
NM_001080.3
p.V190fs
c.568_569fs
4 papers
NM_001080.3
p.V197M
c.589G>A
1 paper
NM_001080.3
p.A188fs
c.562_563fs
2 papers
NM_001080.3
p.L189insFs
c.566_567ins7
1 paper
NM_001080.3
p.R187G
c.559C>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."