Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.L12Q

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
2 papers
NM_194436.3
p.L12Q
c.35T>A
Surrounding Variants
1 paper
NM_194436.3
p.E11K
c.31G>A
1 paper
NM_194436.3
p.W15S
c.44G>C
1 paper
NM_194436.3
p.A8E
c.23C>A
1 paper
NM_194436.3
p.R6S
c.18G>C
1 paper
NM_194436.3
p.C19S
c.55T>A
1 paper
NM_194436.3
p.C19S
c.56G>C
1 paper
NM_194436.3
p.L5I
c.13C>A
2 papers
NM_194436.3
p.L4L
c.12G>C
1 paper
NM_194436.3
p.L4L
c.12G>A
1 paper
NM_194436.3
p.K22*
c.64A>T
2 papers
NM_194436.3
p.M1I
c.3G>T
1 paper
NM_194436.3
p.M1I
c.3G>C
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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."