Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.A259V

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.A259V
c.776C>T
Surrounding Variants
1 paper
NM_194436.3
p.V256A
c.767T>C
1 paper
NM_194436.3
p.H265L
c.794A>T
1 paper
NM_194436.3
p.L267F
c.799C>T
1 paper
NM_194436.3
p.Q268fs
c.802_803fs
1 paper
NM_194436.3
p.Q268R
c.803A>G
1 paper
NM_194436.3
p.Q268delFs
c.803_804delCT
1 paper
NM_194436.3
p.A249S
c.745G>T
1 paper
NM_194436.3
p.E244D
c.732G>T
1 paper
NM_194436.3
p.E244D
c.732G>C
1 paper
NM_194436.3
p.P243_E244insFs
c.729_730insTT
1 paper
NM_194436.3
p.I276N
c.827T>A
2 papers
NM_194436.3
p.P241S
c.721C>T
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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."