Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.W204*

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
22 papers
NM_001080.3
p.W204*
c.612G>A
Surrounding Variants
19 papers
NM_001080.3
p.W204*
c.611G>A
4 papers
NM_001080.3
p.F206delFs
c.617delT
10 papers
NM_001080.3
p.P203_W204Splc
c.610-2A>G
4 papers
NM_001080.3
p.F206fs
c.616_617fs
8 papers
NM_001080.3
p.P207delFs
c.621delC
1 paper
NM_001080.3
p.P207L
c.620C>T
1 paper
NM_001080.3
p.S208fs
c.622_623fs
1 paper
NM_001080.3
p.S208R
c.622A>C
1 paper
NM_001080.3
p.S208fs
c.622_623fs
1 paper
NM_001080.3
p.S208R
c.624T>A
1 paper
NM_001080.3
p.S208R
c.624T>G
1 paper
NM_001080.3
p.T212S
c.634A>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."