Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.E231K

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
7 papers
NM_001080.3
p.E231K
c.691G>A
Surrounding Variants
1 paper
NM_001080.3
p.E231G
c.692A>G
1 paper
NM_001080.3
p.A230A
c.690C>G
1 paper
NM_001080.3
p.A230A
c.690C>T
1 paper
NM_001080.3
p.A230V
c.689C>T
1 paper
NM_001080.3
p.P229S
c.685C>T
7 papers
NM_001080.3
p.T233M
c.698C>T
2 papers
NM_001080.3
p.P234S
c.700C>T
2 papers
NM_001080.3
p.P234L
c.701C>T
1 paper
NM_001080.3
p.V227_K228insFs
c.680_683dup4
1 paper
NM_001080.3
p.V226V
c.678G>A
1 paper
NM_001080.3
p.F235F
c.705C>T
1 paper
NM_001080.3
p.V226M
c.676G>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."