Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.A217T

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.A217T
c.649G>A
Surrounding Variants
1 paper
NM_001080.3
p.A217insFs
c.651dupC
1 paper
NM_001080.3
p.A218_L219delFs
c.652_655del4
1 paper
NM_001080.3
p.A218D
c.653C>A
1 paper
NM_001080.3
p.V215M
c.643G>A
1 paper
NM_001080.3
p.A220_G222delFs
c.660_666del7
3 papers
NM_001080.3
p.V215_G216delFs
c.644_647del4
1 paper
NM_001080.3
p.R213Q
c.638G>A
3 papers
NM_001080.3
p.R213L
c.638G>T
1 paper
NM_001080.3
p.R213G
c.637C>G
1 paper
NM_001080.3
p.R213W
c.637C>T
1 paper
NM_001080.3
p.A221D
c.662C>A
1 paper
NM_001080.3
p.A221A
c.663C>G
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