Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.S251*

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.S251*
c.752C>A
Surrounding Variants
1 paper
NM_001080.3
p.S251*
c.752C>G
1 paper
NM_001080.3
p.S251S
c.753A>C
8 papers
NM_001080.3
p.G252C
c.754G>T
4 papers
NM_001080.3
p.G252D
c.755G>A
6 papers
NM_001080.3
p.G252V
c.755G>T
1 paper
NM_001080.3
p.P250S
c.748C>T
1 paper
NM_001080.3
p.G252G
c.756T>G
1 paper
NM_001080.3
p.Y254H
c.760T>C
1 paper
NM_001080.3
p.Y254*
c.762C>A
1 paper
NM_001080.3
p.Y254*
c.762C>G
3 papers
NM_001080.3
p.N255D
c.763A>G
1 paper
NM_170740.1
p.N268insFs
c.804dupT
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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."