Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.R347W

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
4 papers
NM_194436.3
p.R347W
c.1039C>T
NM_153486.4
p.R370W
c.1108C>T
Surrounding Variants
1 paper
NM_194436.3
p.H348Y
c.1042C>T
1 paper
NM_194436.3
p.W344_R347del4
c.1030_1040del12
1 paper
NM_194436.3
p.W344*
c.1031G>A
4 papers
NM_194436.3
p.W351C
c.1053G>T
NM_153486.4
p.W374C
c.1122G>T
4 papers
NM_194436.3
p.W351C
c.1053G>C
NM_153486.4
p.W374C
c.1122G>C
1 paper
NM_194436.3
p.R340H
c.1019G>A
1 paper
NM_194436.3
p.A354V
c.1061C>T
2 papers
NM_194436.3
p.A356A
c.1068C>A
1 paper
NM_194436.3
p.T357P
c.1069A>C
1 paper
NM_194436.3
p.E336K
c.1006G>A
1 paper
NM_194436.3
p.Q325_N326insAGG
c.973_977ins9
1 paper
NM_194436.3
p.Q317*
c.949C>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."