Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.G271fs

KDSR

58 papers

RefSeq Summary

The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of ...

Pfam Domains

adh_shortaa 33–232UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

3-ketodihydrosphingosine reductase

HGNC Previous Symbol

FVT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002035.4
p.G271fs
c.811_812fs
Surrounding Variants
2 papers
NM_002035.4
p.G271E
c.812G>A
1 paper
NM_002035.4
p.S266Y
c.797C>A
1 paper
NM_002035.4
p.A282D
c.845C>A
1 paper
NM_002035.4
p.E289K
c.865G>A
7 papers
NM_002035.4
p.Q293Q
c.879G>A
1 paper
NM_002035.4
p.Q293del1
c.877_878delCTG
1 paper
NM_002035.4
p.Q293_V294Splc
c.879+568A>T
1 paper
NM_002035.4
p.Q293_V294Splc
c.879+1376C>A
1 paper
NM_002035.4
p.V295A
c.884T>C
1 paper
NM_002035.4
p.V295V
c.885C>T
1 paper
NM_002035.4
p.T296I
c.887C>T
1 paper
NM_002035.4
p.M297R
c.890T>G
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