Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.G30insFs

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.G30insFs
c.88dupG
Surrounding Variants
1 paper
NM_001080.3
p.G29D
c.86G>A
1 paper
NM_001080.3
p.L31_P39insFs
c.92_117dup26
1 paper
NM_001080.3
p.G29fs
c.85_86fs
3 papers
NM_001080.3
p.L31fs
c.91_92fs
1 paper
NM_001080.3
p.V32insFs
c.94dupG
1 paper
NM_001080.3
p.V32delFs
c.94delG
1 paper
NM_001080.3
p.R27G
c.79C>G
1 paper
NM_001080.3
p.G29_P39delFs
c.85_116del32
1 paper
NM_001080.3
p.V32D
c.95T>A
2 papers
NM_001080.3
p.S35_P41delFs
c.103_121del19
1 paper
NM_001080.3
p.R27insFs
c.79dupC
1 paper
NM_001080.3
p.R27delFs
c.79delC
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