Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3B2
Variant:p.N275H

ALDH3B2

71 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidatio...

Pfam Domains

Aldedhaa 3–347UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 3 family member B2

HGNC Previous Symbol

ALDH8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393402.2
p.N275H
c.823A>C
Surrounding Variants
7 papers
NM_001393402.2
p.R276W
c.826C>T
1 paper
NM_001393402.2
p.A285T
c.853G>A
1 paper
NM_001393402.2
p.S289insFs
c.865_866insT
5 papers
NM_001393402.2
p.P257L
c.770C>T
5 papers
NM_001393402.2
p.G256R
c.766G>C
5 papers
NM_001393402.2
p.G256R
c.766G>A
1 paper
NM_001393402.2
p.P248insFs
c.742_743insA
3 papers
NM_001393402.2
p.E245K
c.733G>A
1 paper
NM_001393402.2
p.T238M
c.713C>T
1 paper
NM_001393402.2
p.A236Splc
c.707-4G>A
1 paper
NM_001393402.2
p.Q295*
c.883C>T
3 papers
NM_001393402.2
p.S302R
c.904A>C
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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."