Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.L164_E165del2

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.L164_E165del2
c.490_494del6
Surrounding Variants
1 paper
NM_001080.3
p.E165*
c.493G>T
3 papers
NM_001080.3
p.W166R
c.496T>A
3 papers
NM_001080.3
p.W166R
c.496T>C
1 paper
NM_001080.3
p.A161T
c.481G>A
1 paper
NM_001080.3
p.F167delFs
c.500delT
1 paper
NM_001080.3
p.S160F
c.479C>T
1 paper
NM_001080.3
p.S160_A161del2
c.478_482del6
1 paper
NM_001080.3
p.L158_S160delFs
c.474_480del7
1 paper
NM_001080.3
p.I157T
c.470T>C
1 paper
NM_001080.3
p.I157V
c.469A>G
2 papers
NM_001080.3
p.E156K
c.466G>A
1 paper
NM_001080.3
p.E156_I157delFs
c.467_470del4
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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."