Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.R210delFs

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.R210delFs
c.630delC
Surrounding Variants
1 paper
NM_194436.3
p.S212C
c.634A>T
1 paper
NM_194436.3
p.L221L
c.663C>T
2 papers
NM_194436.3
p.V223V
c.669G>A
4 papers
NM_194436.3
p.T228M
c.683C>T
NM_153486.4
p.T251M
c.752C>T
1 paper
NM_194436.3
p.I232fs
c.694_695fs
2 papers
NM_194436.3
p.P241S
c.721C>T
1 paper
NM_194436.3
p.P243_E244insFs
c.729_730insTT
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.A249S
c.745G>T
1 paper
NM_194436.3
p.V256A
c.767T>C
1 paper
NM_194436.3
p.A259V
c.776C>T
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