Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.K448Splc

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.K448Splc
c.1343+4A>G
Surrounding Variants
3 papers
NM_001080.3
p.K448Splc
c.1343+3A>T
1 paper
NM_001080.3
p.K448Splc
c.1343+1G>A
1 paper
NM_001080.3
p.K448Splc
c.1343+1G>T
1 paper
NM_001080.3
p.K448Splc
c.1343+7T>A
1 paper
NM_001080.3
p.K448*
c.1342A>T
1 paper
NM_001080.3
p.K448delFs
c.1342delA
1 paper
NM_001080.3
p.K448Splc
c.1343+11C>A
1 paper
NM_001080.3
p.P445P
c.1335A>G
1 paper
NM_001080.3
p.P445P
c.1335A>T
1 paper
NM_001080.3
p.K448Splc
c.1343+17A>G
1 paper
NM_001080.3
p.K448Splc
c.1343+19C>T
1 paper
NM_001080.3
p.K448Splc
c.1343+20G>A
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