Varaico: Literature-Extracted Genetic Variants

Gene:BDH1
Variant:p.V268A

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.V268A
c.803T>C
Surrounding Variants
1 paper
NM_203314.3
p.K275R
c.824A>G
1 paper
NM_203314.3
p.I256M
c.768C>G
1 paper
NM_203314.3
p.S252insFs
c.754_755insCT
1 paper
NM_203314.3
p.S249G
c.745A>G
1 paper
NM_203314.3
p.S290N
c.869G>A
1 paper
NM_203314.3
p.S296F
c.887C>T
1 paper
NM_203314.3
p.A301V
c.902C>T
1 paper
NM_203314.3
p.T307A
c.919A>G
1 paper
NM_203314.3
p.A308V
c.923C>T
3 papers
NM_203314.3
p.R223H
c.668G>A
2 papers
NM_203314.3
p.R314H
c.941G>A
1 paper
NM_203314.3
p.S219L
c.656C>T
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