Varaico: Literature-Extracted Genetic Variants

Gene:BDH1
Variant:p.T160N

BDH1

63 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific re...

Pfam Domains

adh_shortaa 56–252UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

3-hydroxybutyrate dehydrogenase 1

HGNC Alias Symbol

SDR9C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203314.3
p.T160N
c.479C>A
Surrounding Variants
1 paper
NM_203314.3
p.E159G
c.476A>G
1 paper
NM_203314.3
p.F150Y
c.449T>A
1 paper
NM_203314.3
p.T149M
c.446C>T
1 paper
NM_203314.3
p.T176M
c.527C>T
1 paper
NM_203314.3
p.T176T
c.528G>A
1 paper
NM_203314.3
p.T176delFs
c.528delC
1 paper
NM_203314.3
p.K177fs
c.529_530fs
2 papers
NM_203314.3
p.V142I
c.424G>A
1 paper
NM_203314.3
p.W139*
c.417G>A
1 paper
NM_203314.3
p.W139*
c.416G>A
1 paper
NM_203314.3
p.V190I
c.568G>A
1 paper
NM_203314.3
p.S194N
c.581G>A
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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."