Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.R261*

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
4 papers
NM_001080.3
p.R261*
c.781C>T
NM_170740.1
p.R274*
c.820C>T
Surrounding Variants
1 paper
NM_001080.3
p.K262N
c.786G>C
1 paper
NM_001080.3
p.K262N
c.786G>T
1 paper
NM_001080.3
p.N263S
c.788A>G
1 paper
NM_001080.3
p.I257fs
c.769_770fs
1 paper
NM_001080.3
p.V256A
c.767T>C
1 paper
NM_001080.3
p.V256_K262delFs
c.768_784del17
1 paper
NM_001080.3
p.V256_C259del0
c.767_775del9
1 paper
NM_001080.3
p.N255K
c.765T>A
1 paper
NM_001080.3
p.N255K
c.765T>G
1 paper
NM_170740.1
p.N268insFs
c.804dupT
1 paper
NM_001080.3
p.E266D
c.798A>C
5 papers
NM_001080.3
p.N255S
c.764A>G
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