Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.P203_W204Splc

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.P203_W204Splc
c.609+43T>C
Surrounding Variants
1 paper
NM_001080.3
p.P203_W204Splc
c.609+42A>C
1 paper
NM_001080.3
p.P203_W204Splc
c.609+41G>T
1 paper
NM_001080.3
p.P203_W204Splc
c.609+39T>C
1 paper
NM_001080.3
p.P203_W204Splc
c.609+39T>G
1 paper
NM_001080.3
p.P203_W204Splc
c.609+37A>C
1 paper
NM_001080.3
p.P203_W204Splc
c.609+37A>G
1 paper
NM_001080.3
p.P203_W204Splc
c.609+49G>A
1 paper
NM_001080.3
p.P203_W204Splc
c.609+50T>C
1 paper
NM_001080.3
p.P203_W204Splc
c.609+50T>G
1 paper
NM_001080.3
p.P203_W204Splc
c.609+52G>C
1 paper
NM_001080.3
p.P203_W204Splc
c.609+58C>A
1 paper
NM_001080.3
p.P203_W204Splc
c.609+62T>G
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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."