Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.E156K

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
2 papers
NM_001080.3
p.E156K
c.466G>A
Surrounding Variants
1 paper
NM_001080.3
p.E156_I157delFs
c.467_470del4
2 papers
NM_001080.3
p.G155E
c.464G>A
1 paper
NM_001080.3
p.I157V
c.469A>G
1 paper
NM_001080.3
p.I157T
c.470T>C
1 paper
NM_001080.3
p.H154R
c.461A>G
1 paper
NM_001080.3
p.H154fs
c.460_461fs
2 papers
NM_001080.3
p.H154_L158delFs
c.460_473del14
1 paper
NM_001080.3
p.L158_S160delFs
c.474_480del7
1 paper
NM_001080.3
p.A153fs
c.457_458fs
1 paper
NM_001080.3
p.S160_A161del2
c.478_482del6
1 paper
NM_001080.3
p.E152Q
c.454G>C
1 paper
NM_001080.3
p.S160F
c.479C>T
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