Varaico: Literature-Extracted Genetic Variants

Gene:DCXR
Variant:p.G75delFs

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.G75delFs
c.224delC
Surrounding Variants
1 paper
NM_016286.4
p.G75fs
c.223_224fs
1 paper
NM_016286.4
p.V74del1
c.220_221delCAC
1 paper
NM_016286.4
p.V74delFs
c.221_222delCA
1 paper
NM_016286.4
p.P76delFs
c.227_228delGG
1 paper
NM_016286.4
p.P76del1
c.226_227delGGG
1 paper
NM_016286.4
p.S73delFs
c.218delC
1 paper
NM_016286.4
p.D78Y
c.232G>T
1 paper
NM_016286.4
p.V81delFs
c.243delC
1 paper
NM_016286.4
p.N82fs
c.244_245fs
1 paper
NM_016286.4
p.A66delFs
c.198delG
1 paper
NM_016286.4
p.A66fs
c.196_197fs
1 paper
NM_016286.4
p.A85T
c.253G>A
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