Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.G268E

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
18 papers
NM_001080.3
p.G268E
c.803G>A
Surrounding Variants
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.E269_P275delFs
c.807_823del17
2 papers
NM_001080.3
p.V267G
c.800T>G
1 paper
NM_001080.3
p.E266D
c.798A>C
1 paper
NM_001080.3
p.E266D
c.798A>T
1 paper
NM_001080.3
p.A270A
c.810A>G
1 paper
NM_001080.3
p.T273A
c.817A>G
1 paper
NM_001080.3
p.N263S
c.788A>G
3 papers
NM_170740.1
p.T286delFs
c.858delT
NM_001080.3
p.T273delFs
c.819delT
1 paper
NM_001080.3
p.K262N
c.786G>C
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