Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q414*

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.Q414*
c.1240C>T
Surrounding Variants
1 paper
NM_001080.3
p.Q414Q
c.1242A>G
1 paper
NM_001080.3
p.L415I
c.1243C>A
12 papers
NM_001080.3
p.R412*
c.1234C>T
NM_170740.1
p.R425*
c.1273C>T
2 papers
NM_001080.3
p.N418delFs
c.1253delA
1 paper
NM_001080.3
p.F419delFs
c.1256delT
31 papers
NM_001080.3
p.G409D
c.1226G>A
NM_170740.1
p.G422D
c.1265G>A
1 paper
NM_001080.3
p.G409R
c.1225G>C
1 paper
NM_001080.3
p.F419L
c.1255T>C
1 paper
NM_001080.3
p.F419V
c.1255T>G
1 paper
NM_001080.3
p.F419S
c.1256T>C
1 paper
NM_001080.3
p.F419L
c.1257C>A
1 paper
NM_001080.3
p.F419L
c.1257C>G
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