Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.L243_S245del0

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
4 papers
NM_001080.3
p.L243_S245del0
c.727_735del9
Surrounding Variants
1 paper
NM_001080.3
p.E242_L243Splc
c.727-1G>C
1 paper
NM_001080.3
p.E242_L243Splc
c.727-2A>G
1 paper
NM_001080.3
p.L243F
c.727C>T
3 papers
NM_001080.3
p.L243P
c.728T>C
1 paper
NM_001080.3
p.E242_L243Splc
c.727-4A>G
2 papers
NM_001080.3
p.A244_Q246del0
c.730_738del9
1 paper
NM_001080.3
p.A244_S251del8
c.730_752del24
2 papers
NM_001080.3
p.S245del1
c.733_734delAGC
1 paper
NM_001080.3
p.S245G
c.733A>G
2 papers
NM_001080.3
p.Q246del1
c.736_737delCAG
1 paper
NM_001080.3
p.P250S
c.748C>T
1 paper
NM_001080.3
p.S251*
c.752C>A
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