Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.Q317*

LDHD

254 papers

RefSeq Summary

The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternat...

Pfam Domains

FAD_binding_4aa 66–203UCSCFAD binding domain
FAD-oxidase_Caa 265–506UCSCFAD linked oxidases, C-terminal domain

Gene Aliases

HGNC Name

lactate dehydrogenase D

HGNC Alias Name

D-lactate dehydrogenase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194436.3
p.Q317*
c.949C>T
Surrounding Variants
1 paper
NM_194436.3
p.L316L
c.946C>T
2 papers
NM_194436.3
p.Q315*
c.943C>T
1 paper
NM_194436.3
p.G307S
c.919G>A
1 paper
NM_194436.3
p.A286_R289del4
c.856_866del12
1 paper
NM_194436.3
p.R289R
c.867G>A
2 papers
NM_194436.3
p.R289insFs
c.865dupA
1 paper
NM_194436.3
p.R289delFs
c.865delT
1 paper
NM_194436.3
p.M284_D285delFs
c.852_855del4
1 paper
NM_194436.3
p.Q325_N326insAGG
c.973_977ins9
1 paper
NM_194436.3
p.L279P
c.836T>C
3 papers
NM_194436.3
p.E277Splc
c.830-1G>T
1 paper
NM_194436.3
p.E277K
c.829G>A
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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."