Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.V69A

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
3 papers
NM_194436.3
p.V69A
c.206T>C
Surrounding Variants
1 paper
NM_194436.3
p.A68insFs
c.203_204insC
1 paper
NM_194436.3
p.W71*
c.212G>A
1 paper
NM_194436.3
p.W71C
c.213G>T
1 paper
NM_194436.3
p.W71*
c.213G>A
1 paper
NM_194436.3
p.E64delFs
c.191delT
1 paper
NM_194436.3
p.E64K
c.190G>A
1 paper
NM_194436.3
p.C63*
c.189C>A
1 paper
NM_194436.3
p.A83T
c.247G>A
1 paper
NM_194436.3
p.R87C
c.259C>T
1 paper
NM_194436.3
p.R87H
c.260G>A
1 paper
NM_194436.3
p.Q88*
c.262C>T
1 paper
NM_194436.3
p.G96_T97delFs
c.286_289del4
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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."