Varaico: Literature-Extracted Genetic Variants

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_012424.6

p.S75L

c.224C>T

Surrounding Variants

1 paper

NM_012424.6

p.R73*

c.217C>T

1 paper

NM_012424.6

p.P80fs

c.238_239fs

1 paper

NM_012424.6

p.I85delFs

c.254delT

1 paper

NM_012424.6

p.W65*

c.195G>A

1 paper

NM_012424.6

p.W65*

c.194G>A

1 paper

NM_012424.6

p.E47_I48Splc

c.142-2602G>A

1 paper

NM_012424.6

p.V45I

c.133G>A

1 paper

NM_012424.6

p.P42T

c.124C>A