Varaico: Literature-Extracted Genetic Variants

Gene:DHDH
Variant:p.G282R

DHDH

68 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. T...

Pfam Domains

GFO_IDH_MocAaa 3–123UCSCOxidoreductase family, NAD-binding Rossmann fold
GFO_IDH_MocA_C3aa 132–248UCSCGFO/IDH/MocA C-terminal domain

Gene Aliases

HGNC Name

dihydrodiol dehydrogenase

HGNC Alias Symbol

HUM2DD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_014475.4
p.G282R
c.844G>C
Surrounding Variants
4 papers
NM_014475.4
p.G282R
c.844G>A
1 paper
NM_014475.4
p.C277*
c.831C>A
1 paper
NM_014475.4
p.A289S
c.865G>T
1 paper
NM_014475.4
p.E294del1
c.880_881delGAG
2 papers
NM_014475.4
p.E294delFs
c.880_881delGA
4 papers
NM_014475.4
p.E294fs
c.880_881fs
1 paper
NM_014475.4
p.L296_R297insFs
c.888_889insG
1 paper
NM_014475.4
p.E264insFs
c.790dupG
1 paper
NM_014475.4
p.F329fs
c.985_986fs
1 paper
NM_014475.4
p.V247A
c.740T>C
3 papers
NM_014475.4
p.Q233*
c.697C>T
1 paper
NM_014475.4
p.T213M
c.638C>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."