Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.P20_G21insFs

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.P20_G21insFs
c.60_61insC
Surrounding Variants
1 paper
NM_001080.3
p.P20L
c.59C>T
1 paper
NM_001080.3
p.G21insFs
c.61_62insC
1 paper
NM_001080.3
p.P20insFs
c.58_59ins35
1 paper
NM_001080.3
p.G21D
c.62G>A
1 paper
NM_001080.3
p.G21insFs
c.62_63insC
1 paper
NM_001080.3
p.C22insFs
c.65_66ins11
1 paper
NM_001080.3
p.C22insFs
c.65_66ins17
1 paper
NM_001080.3
p.C22ins7
c.65_66ins21
1 paper
NM_001080.3
p.C22insFs
c.66dupC
1 paper
NM_001080.3
p.C22insFs
c.65_66ins13
1 paper
NM_001080.3
p.R23delFs
c.67delC
1 paper
NM_001080.3
p.F19insFs
c.55_56ins46
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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."