Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3B1
Variant:p.R231L

ALDH3B1

43 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alc...

Pfam Domains

Aldedhaa 6–160UCSCAldehyde dehydrogenase family
Aldedhaa 6–428UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 3 family member B1

HGNC Previous Symbol

ALDH7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000694.4
p.R231L
c.692G>T
Surrounding Variants
1 paper
NM_000694.4
p.R231C
c.691C>T
1 paper
NM_000694.4
p.N230_R231insC
c.688_692ins3
1 paper
NM_000694.4
p.R236C
c.706C>T
1 paper
NM_000694.4
p.Q242K
c.724C>A
3 papers
NM_000694.4
p.V245M
c.733G>A
1 paper
NM_000694.4
p.G213D
c.638G>A
1 paper
NM_000694.4
p.V207insFs
c.620_621insG
1 paper
NM_000694.4
p.P190S
c.568C>T
1 paper
NM_000694.4
p.K289insFs
c.865_866insT
2 papers
NM_000694.4
p.G301S
c.901G>A
3 papers
NM_000694.4
p.G301R
c.901G>C
1 paper
NM_000694.4
p.G301insFs
c.901_902insC
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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."