Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.Q85_V86Splc

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
2 papers
NM_002035.4
p.Q85_V86Splc
c.256-2A>C
Surrounding Variants
2 papers
NM_002035.4
p.V87V
c.261G>A
1 paper
NM_002035.4
p.V104F
c.310G>T
1 paper
NM_002035.4
p.V104A
c.311T>C
1 paper
NM_002035.4
p.V104D
c.311T>A
1 paper
NM_002035.4
p.I105R
c.314T>G
1 paper
NM_002035.4
p.M117I
c.351G>A
1 paper
NM_002035.4
p.D132H
c.394G>C
1 paper
NM_002035.4
p.D132E
c.396T>G
1 paper
NM_002035.4
p.D132E
c.396T>A
3 papers
NM_002035.4
p.F138C
c.413T>G
1 paper
NM_002035.4
p.E139_R140Splc
c.417+3A>C
1 paper
NM_002035.4
p.E75delFs
c.223_224delTC
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