Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.K262N

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.K262N
c.786G>C
Surrounding Variants
1 paper
NM_001080.3
p.K262N
c.786G>T
1 paper
NM_001080.3
p.N263S
c.788A>G
4 papers
NM_001080.3
p.R261*
c.781C>T
NM_170740.1
p.R274*
c.820C>T
1 paper
NM_001080.3
p.E266D
c.798A>C
1 paper
NM_001080.3
p.E266D
c.798A>T
2 papers
NM_001080.3
p.V267G
c.800T>G
1 paper
NM_001080.3
p.G268insFs
c.804dupG
1 paper
NM_001080.3
p.V267V
c.801A>G
1 paper
NM_001080.3
p.V267V
c.801A>T
1 paper
NM_001080.3
p.I257fs
c.769_770fs
18 papers
NM_001080.3
p.G268E
c.803G>A
1 paper
NM_001080.3
p.V256A
c.767T>C
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