Varaico: Literature-Extracted Genetic Variants

Gene:DCXR
Variant:p.Q25delFs

DCXR

32 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolis...

Pfam Domains

adh_short_C2aa 14–242UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

dicarbonyl and L-xylulose reductase

HGNC Alias Symbols

KIDCR; SDR20C1; HCR2; P34H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016286.4
p.Q25delFs
c.74delT
Surrounding Variants
1 paper
NM_016286.4
p.A26delFs
c.76delC
1 paper
NM_016286.4
p.H28L
c.83A>T
2 papers
NM_016286.4
p.G18Splc
c.52+1G>A
1 paper
NM_016286.4
p.L11M
c.31C>A
1 paper
NM_016286.4
p.M1L
c.1A>T
1 paper
NM_016286.4
p.M1L
c.1A>C
1 paper
NM_016286.4
p.A66fs
c.196_197fs
1 paper
NM_016286.4
p.A66delFs
c.198delG
1 paper
NM_016286.4
p.S73delFs
c.218delC
1 paper
NM_016286.4
p.V74delFs
c.221_222delCA
1 paper
NM_016286.4
p.V74del1
c.220_221delCAC
1 paper
NM_016286.4
p.G75fs
c.223_224fs
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