Varaico: Literature-Extracted Genetic Variants

Gene:BDH1
Variant:p.G54G

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.G54G
c.162C>A
Surrounding Variants
1 paper
NM_203314.3
p.K56Q
c.166A>C
1 paper
NM_203314.3
p.K56K
c.168A>G
1 paper
NM_203314.3
p.L59insFs
c.175_176ins4
1 paper
NM_203314.3
p.V53_L59del0
c.159_176del18
1 paper
NM_203314.3
p.C63S
c.187T>A
1 paper
NM_203314.3
p.H74Y
c.220C>T
1 paper
NM_203314.3
p.S77L
c.230C>T
1 paper
NM_203314.3
p.V82A
c.245T>C
1 paper
NM_203314.3
p.G85G
c.255C>T
1 paper
NM_203314.3
p.K89T
c.266A>C
1 paper
NM_203314.3
p.K89_D90Splc
c.267+1G>A
1 paper
NM_203314.3
p.K89_D90Splc
c.267+174G>C
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