Varaico: Literature-Extracted Genetic Variants

Gene:BDH1

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
1–12 of 65 variants
3 papers
NM_203314.3
p.R128C
c.382C>T
3 papers
NM_203314.3
p.R223H
c.668G>A
2 papers
NM_203314.3
p.C115S
c.343T>A
2 papers
NM_203314.3
p.C115S
c.344G>C
2 papers
NM_203314.3
p.V142I
c.424G>A
2 papers
NM_203314.3
p.R314H
c.941G>A
1 paper
NM_203314.3
p.M1I
c.3G>A
1 paper
NM_203314.3
p.M1delFs
c.2delA
1 paper
NM_203314.3
p.L13L
c.39C>A
1 paper
NM_203314.3
p.G15E
c.44G>A
1 paper
NM_203314.3
p.T17S
c.50C>G
1 paper
NM_203314.3
p.I41fs
c.121_122fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."