Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q43delFs

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
5 papers
NM_001080.3
p.Q43delFs
c.127delC
Surrounding Variants
1 paper
NM_001080.3
p.P41P
c.123G>A
1 paper
NM_001080.3
p.A42_L44insFs
c.126_130dup5
1 paper
NM_001080.3
p.Q43fs
c.127_128fs
3 papers
NM_001080.3
p.Q43insFs
c.128_129ins5
1 paper
NM_001080.3
p.G40R
c.118G>C
1 paper
NM_001080.3
p.G40delFs
c.119delG
1 paper
NM_001080.3
p.C46_G49insFs
c.138_145dup8
1 paper
NM_001080.3
p.G40_L44insFs
c.118_130dup13
1 paper
NM_001080.3
p.P39R
c.116C>G
2 papers
NM_001080.3
p.P39A
c.115C>G
1 paper
NM_001080.3
p.R45delFs
c.134delG
2 papers
NM_001080.3
p.A38insFs
c.113_114ins5
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