Varaico: Literature-Extracted Genetic Variants

Gene:SPHK2
Variant:p.G514C

SPHK2

52 papers

RefSeq Summary

This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes includi...

Pfam Domains

DAGK_cataa 182–321UCSCDiacylglycerol kinase catalytic domain
YegS_Caa 532–644UCSCYegS C-terminal NAD kinase beta sandwich-like domain

Gene Aliases

HGNC Name

sphingosine kinase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020126.5
p.G514C
c.1540G>T
Surrounding Variants
1 paper
NM_020126.5
p.P502S
c.1504C>T
1 paper
NM_020126.5
p.D530E
c.1590C>A
1 paper
NM_020126.5
p.D530E
c.1590C>G
1 paper
NM_020126.5
p.W531R
c.1591T>A
1 paper
NM_020126.5
p.W531R
c.1591T>C
1 paper
NM_020126.5
p.L553L
c.1657C>T
1 paper
NM_020126.5
p.S472F
c.1415C>T
1 paper
NM_020126.5
p.P557P
c.1671G>A
1 paper
NM_020126.5
p.R560C
c.1678C>T
1 paper
NM_020126.5
p.S437S
c.1311G>A
1 paper
NM_020126.5
p.G436D
c.1307G>A
2 papers
NM_020126.5
p.P598L
c.1793C>T
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