Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.I280delFs

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.I280delFs
c.838_839delAT
Surrounding Variants
1 paper
NM_001080.3
p.K279R
c.836A>G
1 paper
NM_001080.3
p.I280S
c.839T>G
1 paper
NM_001080.3
p.S278_K279ins9
c.832_836ins27
1 paper
NM_001080.3
p.L276L
c.828G>C
1 paper
NM_170740.1
p.G297C
c.889G>T
1 paper
NM_001080.3
p.G284D
c.851G>A
1 paper
NM_001080.3
p.S285*
c.854C>A
1 paper
NM_001080.3
p.S285*
c.854C>G
2 papers
NM_001080.3
p.D274fs
c.820_821fs
1 paper
NM_001080.3
p.T286A
c.856A>G
3 papers
NM_170740.1
p.T286delFs
c.858delT
NM_001080.3
p.T273delFs
c.819delT
1 paper
NM_001080.3
p.T273A
c.817A>G
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