Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.P445P

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.P445P
c.1335A>T
Surrounding Variants
1 paper
NM_001080.3
p.P445P
c.1335A>G
1 paper
NM_001080.3
p.K448delFs
c.1342delA
1 paper
NM_001080.3
p.K448*
c.1342A>T
1 paper
NM_001080.3
p.K448Splc
c.1343+1G>A
1 paper
NM_001080.3
p.K448Splc
c.1343+1G>T
3 papers
NM_001080.3
p.K448Splc
c.1343+3A>T
1 paper
NM_001080.3
p.P442fs
c.1324_1325fs
2 papers
NM_001080.3
p.P442S
c.1324C>T
1 paper
NM_001080.3
p.P442fs
c.1324_1325fs
1 paper
NM_001080.3
p.K448Splc
c.1343+4A>G
11 papers
NM_001080.3
p.G441R
c.1321G>A
8 papers
NM_001080.3
p.G441R
c.1321G>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."