Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.C93F

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
21 papers
NM_001080.3
p.C93F
c.278G>T
Surrounding Variants
1 paper
NM_001080.3
p.G94_R99insFs
c.281_296dup16
1 paper
NM_001080.3
p.G94_V95insFs
c.282_283dupGG
2 papers
NM_001080.3
p.C93R
c.277T>C
1 paper
NM_001080.3
p.C93ins3
c.278_279ins9
3 papers
NM_001080.3
p.C93_A100ins2
c.278_298dup21
1 paper
NM_001080.3
p.D92G
c.275A>G
1 paper
NM_001080.3
p.D92delFs
c.276delC
1 paper
NM_001080.3
p.A91V
c.272C>T
3 papers
NM_001080.3
p.V90A
c.269T>C
2 papers
NM_001080.3
p.E97_R103ins2
c.289_309dup21
1 paper
NM_001080.3
p.M89I
c.267G>A
1 paper
NM_001080.3
p.M89I
c.267G>C
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