Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.A72V

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.A72V
c.215C>T
Surrounding Variants
1 paper
NM_002035.4
p.K73R
c.218A>G
2 papers
NM_002035.4
p.E75fs
c.223_224fs
1 paper
NM_002035.4
p.E75delFs
c.223_224delTC
1 paper
NM_002035.4
p.E66_D67Splc
c.198+1G>A
1 paper
NM_002035.4
p.L61fs
c.181_182fs
2 papers
NM_002035.4
p.T60delFs
c.178delT
2 papers
NM_002035.4
p.T60fs
c.178_179fs
1 paper
NM_002035.4
p.I59L
c.175A>T
2 papers
NM_002035.4
p.Q55_G56del1
c.164_166delCTT
2 papers
NM_002035.4
p.Q85_V86Splc
c.256-2A>C
2 papers
NM_002035.4
p.V87V
c.261G>A
1 paper
NM_002035.4
p.V104F
c.310G>T
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