Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.L425L

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
6 papers
NM_001080.3
p.L425L
c.1273C>T
Surrounding Variants
5 papers
NM_001080.3
p.L425P
c.1274T>C
NM_170740.1
p.L438P
c.1313T>C
3 papers
NM_001080.3
p.C426Y
c.1277G>A
1 paper
NM_001080.3
p.N427_T429insFs
c.1279_1286dup8
4 papers
NM_001080.3
p.T423S
c.1268C>G
1 paper
NM_001080.3
p.T423A
c.1267A>G
3 papers
NM_001080.3
p.T423S
c.1267A>T
2 papers
NM_001080.3
p.N427S
c.1280A>G
1 paper
NM_001080.3
p.E421*
c.1261G>T
1 paper
NM_001080.3
p.Q430*
c.1288C>T
1 paper
NM_001080.3
p.Q430R
c.1289A>G
1 paper
NM_001080.3
p.F419L
c.1257C>A
1 paper
NM_001080.3
p.F419L
c.1257C>G
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