Varaico: Literature-Extracted Genetic Variants

Gene:DCXR
Variant:p.H195fs

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.H195fs
c.583_584fs
Surrounding Variants
3 papers
NM_016286.4
p.D193delFs
c.579delG
2 papers
NM_016286.4
p.W191S
c.572G>C
1 paper
NM_016286.4
p.H170Y
c.508C>T
1 paper
NM_016286.4
p.P169L
c.506C>T
1 paper
NM_016286.4
p.A164T
c.490G>A
1 paper
NM_016286.4
p.V216M
c.646G>A
1 paper
NM_016286.4
p.N217D
c.649A>G
1 paper
NM_016286.4
p.L156Q
c.467T>A
2 papers
NM_016286.4
p.A218T
c.652G>A
1 paper
NM_016286.4
p.I219V
c.655A>G
1 paper
NM_016286.4
p.K153M
c.458A>T
1 paper
NM_016286.4
p.F221_L222del2
c.661_665del6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."