Varaico: Literature-Extracted Genetic Variants

Gene:BDH1
Variant:p.A50A

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.A50A
c.150G>A
Surrounding Variants
1 paper
NM_203314.3
p.E51Q
c.151G>C
1 paper
NM_203314.3
p.A50V
c.149C>T
1 paper
NM_203314.3
p.E51A
c.152A>C
1 paper
NM_203314.3
p.E51D
c.153G>T
1 paper
NM_203314.3
p.E51D
c.153G>C
1 paper
NM_203314.3
p.P52P
c.156G>A
1 paper
NM_203314.3
p.R44W
c.130C>T
1 paper
NM_203314.3
p.I41delFs
c.123delA
1 paper
NM_203314.3
p.I41fs
c.121_122fs
1 paper
NM_203314.3
p.G54G
c.162C>A
1 paper
NM_203314.3
p.K56Q
c.166A>C
1 paper
NM_203314.3
p.K56K
c.168A>G
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."