Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1

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
1–12 of 1017 variants
35 papers
NM_001080.3
p.H180Y
c.538C>T
29 papers
NM_001080.3
p.G409D
c.1226G>A
27 papers
NM_001080.3
p.P182L
c.545C>T
22 papers
NM_001080.3
p.W204*
c.612G>A
21 papers
NM_001080.3
p.C93F
c.278G>T
19 papers
NM_001080.3
p.G36R
c.106G>C
19 papers
NM_001080.3
p.W204*
c.611G>A
18 papers
NM_001080.3
p.G268E
c.803G>A
16 papers
NM_001080.3
p.G176R
c.526G>A
15 papers
NM_001080.3
p.G36R
c.106G>A
15 papers
NM_001080.3
p.G176R
c.526G>C
15 papers
NM_001080.3
p.A237S
c.709G>T
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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."