Varaico: Literature-Extracted Genetic Variants

Gene:DCXR
Variant:p.F241L

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
2 papers
NM_016286.4
p.F241L
c.723C>G
Surrounding Variants
2 papers
NM_016286.4
p.F241L
c.723C>A
2 papers
NM_016286.4
p.F241L
c.721T>C
1 paper
NM_016286.4
p.G239R
c.715G>C
1 paper
NM_016286.4
p.G239R
c.715G>A
1 paper
NM_016286.4
p.M229R
c.686T>G
1 paper
NM_016286.4
p.S227_G228del2
c.679_683del6
1 paper
NM_016286.4
p.F221_L222del2
c.661_665del6
1 paper
NM_016286.4
p.I219V
c.655A>G
2 papers
NM_016286.4
p.A218T
c.652G>A
1 paper
NM_016286.4
p.N217D
c.649A>G
1 paper
NM_016286.4
p.V216M
c.646G>A
1 paper
NM_016286.4
p.H195fs
c.583_584fs
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