Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1B1
Variant:p.G387delFs

ALDH1B1

107 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain int...

Pfam Domains

Aldedhaa 45–508UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 1 family member B1

HGNC Previous Symbol

ALDH5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000692.5
p.G387delFs
c.1161delC
Surrounding Variants
2 papers
NM_000692.5
p.G387fs
c.1159_1160fs
1 paper
NM_000692.5
p.G388R
c.1162G>A
1 paper
NM_000692.5
p.G388R
c.1162G>C
1 paper
NM_000692.5
p.G388fs
c.1162_1163fs
1 paper
NM_000692.5
p.R390H
c.1169G>A
1 paper
NM_000692.5
p.R390R
c.1170T>A
1 paper
NM_000692.5
p.G392R
c.1174G>A
1 paper
NM_000692.5
p.G392R
c.1174G>C
3 papers
NM_000692.5
p.Q378*
c.1132C>T
1 paper
NM_000692.5
p.Q407R
c.1220A>G
1 paper
NM_000692.5
p.Q366ins2
c.1096_1097ins6
1 paper
NM_000692.5
p.P420S
c.1258C>T
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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."