Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.H180Y

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
35 papers
NM_001080.3
p.H180Y
c.538C>T
Surrounding Variants
1 paper
NM_001080.3
p.H180H
c.540C>T
1 paper
NM_001080.3
p.I179N
c.536T>A
1 paper
NM_001080.3
p.I179F
c.535A>T
1 paper
NM_001080.3
p.T181I
c.542C>T
1 paper
NM_001080.3
p.I178V
c.532A>G
27 papers
NM_001080.3
p.P182L
c.545C>T
1 paper
NM_001080.3
p.D177D
c.531C>T
1 paper
NM_001080.3
p.P182P
c.546G>A
1 paper
NM_001080.3
p.D177N
c.529G>A
1 paper
NM_001080.3
p.D177_I178insFs
c.531_532dupCA
7 papers
NM_001080.3
p.G176E
c.527G>A
16 papers
NM_001080.3
p.G176R
c.526G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."