Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.I144M

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.I144M
c.432C>G
Surrounding Variants
1 paper
NM_002035.4
p.N145S
c.434A>G
1 paper
NM_002035.4
p.S149S
c.447C>T
1 paper
NM_002035.4
p.V150M
c.448G>A
4 papers
NM_002035.4
p.R154W
c.460C>T
4 papers
NM_002035.4
p.V171A
c.512T>C
1 paper
NM_002035.4
p.A175T
c.523G>A
3 papers
NM_002035.4
p.G182S
c.544G>A
3 papers
NM_002035.4
p.Y186F
c.557A>T
2 papers
NM_002035.4
p.A188T
c.562G>A
2 papers
NM_002035.4
p.S189F
c.566C>T
1 paper
NM_002035.4
p.E139_R140Splc
c.417+3A>C
3 papers
NM_002035.4
p.F138C
c.413T>G
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