Varaico: Literature-Extracted Genetic Variants

Gene:BDH1
Variant:p.L13L

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.L13L
c.39C>A
Surrounding Variants
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.M1I
c.3G>A
1 paper
NM_203314.3
p.M1delFs
c.2delA
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