Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.S146_G147Splc

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.S146_G147Splc
c.439-26G>A
Surrounding Variants
1 paper
NM_001080.3
p.S146_G147Splc
c.439-27C>T
1 paper
NM_001080.3
p.S146_G147Splc
c.439-23G>T
1 paper
NM_001080.3
p.S146_G147Splc
c.439-11A>G
1 paper
NM_001080.3
p.S146_G147Splc
c.439-41A>T
1 paper
NM_001080.3
p.S146_G147Splc
c.439-44A>G
1 paper
NM_001080.3
p.S146_G147Splc
c.439-7A>C
1 paper
NM_001080.3
p.S146_G147Splc
c.439-7A>G
2 papers
NM_001080.3
p.S146_G147Splc
c.439-2A>G
1 paper
NM_001080.3
p.G147_K151delFs
c.439_452del14
1 paper
NM_001080.3
p.S146_G147Splc
c.439-52A>C
1 paper
NM_001080.3
p.K148fs
c.442_443fs
1 paper
NM_001080.3
p.S146_G147Splc
c.439-55G>A
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."