Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.S17*

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.S17*
c.50C>A
Surrounding Variants
1 paper
NM_001080.3
p.S17W
c.50C>G
2 papers
NM_001080.3
p.S17L
c.50C>T
1 paper
NM_001080.3
p.S17_T18ins13
c.51_52ins39
1 paper
NM_001080.3
p.T18insFs
c.53_54insC
1 paper
NM_001080.3
p.G16_S17ins12
c.48_49ins36
1 paper
NM_001080.3
p.G16insFs
c.47_48ins47
1 paper
NM_001080.3
p.G16insFs
c.46_47ins47
1 paper
NM_001080.3
p.F19insFs
c.55_56ins46
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins44
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins41
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins32
1 paper
NM_001080.3
p.G16insFs
c.46dupG
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