Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.K148fs

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.K148fs
c.442_443fs
Surrounding Variants
1 paper
NM_001080.3
p.G147_K151delFs
c.439_452del14
2 papers
NM_001080.3
p.S146_G147Splc
c.439-2A>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.E152insFs
c.455_456dupAG
1 paper
NM_001080.3
p.E152Q
c.454G>C
1 paper
NM_001080.3
p.S146_G147Splc
c.439-11A>G
1 paper
NM_001080.3
p.A153fs
c.457_458fs
2 papers
NM_001080.3
p.H154_L158delFs
c.460_473del14
1 paper
NM_001080.3
p.H154fs
c.460_461fs
1 paper
NM_001080.3
p.H154R
c.461A>G
2 papers
NM_001080.3
p.G155E
c.464G>A
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