Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.G441R

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
8 papers
NM_001080.3
p.G441R
c.1321G>C
Surrounding Variants
11 papers
NM_001080.3
p.G441R
c.1321G>A
7 papers
NM_001080.3
p.G441insFs
c.1323dupG
1 paper
NM_001080.3
p.P442fs
c.1324_1325fs
2 papers
NM_001080.3
p.P442S
c.1324C>T
1 paper
NM_001080.3
p.P442fs
c.1324_1325fs
1 paper
NM_001080.3
p.T439I
c.1316C>T
1 paper
NM_001080.3
p.T439S
c.1315A>T
2 papers
NM_001080.3
p.H436Q
c.1308T>A
1 paper
NM_001080.3
p.H436H
c.1308T>C
2 papers
NM_001080.3
p.H436Q
c.1308T>G
1 paper
NM_001080.3
p.P445P
c.1335A>G
1 paper
NM_001080.3
p.P445P
c.1335A>T
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