Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.C223Y

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
7 papers
NM_001080.3
p.C223Y
c.668G>A
Surrounding Variants
4 papers
NM_001080.3
p.C223R
c.667T>C
2 papers
NM_001080.3
p.T224I
c.671C>T
2 papers
NM_001080.3
p.G222S
c.664G>A
1 paper
NM_001080.3
p.V225_V227del0
c.675_680del6
1 paper
NM_001080.3
p.A221A
c.663C>G
1 paper
NM_001080.3
p.A221A
c.663C>T
1 paper
NM_001080.3
p.A221D
c.662C>A
1 paper
NM_001080.3
p.V226M
c.676G>A
1 paper
NM_001080.3
p.V226V
c.678G>A
1 paper
NM_001080.3
p.V227_K228insFs
c.680_683dup4
1 paper
NM_001080.3
p.A220_G222delFs
c.660_666del7
1 paper
NM_001080.3
p.A218D
c.653C>A
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