Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.K448Splc

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.K448Splc
c.1343+53G>A
Surrounding Variants
1 paper
NM_001080.3
p.K448Splc
c.1343+52A>C
1 paper
NM_001080.3
p.K448Splc
c.1343+52A>G
1 paper
NM_001080.3
p.K448Splc
c.1343+56A>T
1 paper
NM_001080.3
p.K448Splc
c.1343+49C>T
1 paper
NM_001080.3
p.K448Splc
c.1343+47A>G
1 paper
NM_001080.3
p.K448Splc
c.1343+60C>T
1 paper
NM_001080.3
p.K448Splc
c.1343+44G>T
1 paper
NM_001080.3
p.K448Splc
c.1343+40A>G
1 paper
NM_001080.3
p.K448Splc
c.1343+38A>G
1 paper
NM_001080.3
p.K448Splc
c.1343+37A>C
1 paper
NM_001080.3
p.K448Splc
c.1343+72C>T
1 paper
NM_001080.3
p.K448Splc
c.1343+29G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."