Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KC1
Variant:p.L139F

RPS6KC1

80 papers

RefSeq Summary

Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phospha...

Pfam Domains

PXaa 40–127UCSCPX domain
MITaa 59–124UCSCMIT (microtubule interacting and transport) domain
Pkinaseaa 409–591UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase C1

HGNC Alias Symbols

humS6PKh1; RSKL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001349654.2
p.L139F
c.415C>T
Surrounding Variants
3 papers
NM_012424.6
p.A407V
c.1220C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."