Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q79*

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
2 papers
NM_001080.3
p.Q79*
c.235C>T
Surrounding Variants
1 paper
NM_001080.3
p.Q79L
c.236A>T
1 paper
NM_001080.3
p.V78V
c.234G>T
1 paper
NM_001080.3
p.Q79H
c.237A>T
1 paper
NM_001080.3
p.P77T
c.229C>A
1 paper
NM_001080.3
p.P81S
c.241C>T
1 paper
NM_001080.3
p.P81_A82del1
c.243_245delGGC
1 paper
NM_001080.3
p.A82_G84delFs
c.244_251del8
1 paper
NM_001080.3
p.T75N
c.224C>A
1 paper
NM_001080.3
p.T75fs
c.223_224fs
1 paper
NM_001080.3
p.G84R
c.250G>C
1 paper
NM_001080.3
p.A73A
c.219C>A
2 papers
NM_001080.3
p.L70P
c.209T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."