Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3B1
Variant:p.V126L

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.V126L
c.376G>C
Surrounding Variants
1 paper
NM_000694.4
p.V126L
c.376G>T
1 paper
NM_000694.4
p.K102E
c.304A>G
1 paper
NM_000694.4
p.N77insFs
c.230_231insC
1 paper
NM_000694.4
p.N77fs
c.229_230fs
1 paper
NM_000694.4
p.R76K
c.227G>A
1 paper
NM_000694.4
p.V135V
c.405G>A
1 paper
NM_000694.4
p.P139L
c.416C>T
1 paper
NM_000694.4
p.S140P
c.418T>C
2 papers
NM_000694.4
p.V64D
c.191T>A
1 paper
NM_000694.4
p.S143I
c.428G>T
1 paper
NM_000694.4
p.F57L
c.171C>A
1 paper
NM_000694.4
p.F57L
c.171C>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."