Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.T288T

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.T288T
c.864A>T
Surrounding Variants
1 paper
NM_001080.3
p.T288A
c.862A>G
2 papers
NM_001080.3
p.G289E
c.866G>A
1 paper
NM_001080.3
p.K290K
c.870G>A
1 paper
NM_001080.3
p.T286delFs
c.858delA
3 papers
NM_001080.3
p.K290_I291Splc
c.870+1G>A
8 papers
NM_001080.3
p.K290_I291Splc
c.870+1G>T
1 paper
NM_001080.3
p.T286A
c.856A>G
1 paper
NM_001080.3
p.S285*
c.854C>A
1 paper
NM_001080.3
p.S285*
c.854C>G
1 paper
NM_001080.3
p.G284D
c.851G>A
1 paper
NM_001080.3
p.K290_I291Splc
c.870+8A>T
1 paper
NM_170740.1
p.G297C
c.889G>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."