Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.V32D

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.V32D
c.95T>A
Surrounding Variants
1 paper
NM_001080.3
p.V32insFs
c.94dupG
1 paper
NM_001080.3
p.V32delFs
c.94delG
3 papers
NM_001080.3
p.L31fs
c.91_92fs
2 papers
NM_001080.3
p.S35_P41delFs
c.103_121del19
1 paper
NM_001080.3
p.L31_P39insFs
c.92_117dup26
1 paper
NM_001080.3
p.G30insFs
c.88dupG
1 paper
NM_001080.3
p.S35fs
c.103_104fs
9 papers
NM_001080.3
p.S35_Q43del0
c.104_127del24
1 paper
NM_001080.3
p.G29D
c.86G>A
1 paper
NM_001080.3
p.G29fs
c.85_86fs
15 papers
NM_001080.3
p.G36R
c.106G>A
19 papers
NM_001080.3
p.G36R
c.106G>C
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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."