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.A261T

c.781G>A

Surrounding Variants

1 paper

NM_012424.6

p.F265L

c.795T>A

1 paper

NM_012424.6

p.F265F

c.795T>C

1 paper

NM_012424.6

p.E254del1

c.760_761delGAA

1 paper

NM_012424.6

p.L274L

c.822A>G

1 paper

NM_012424.6

p.L246F

c.738A>C

1 paper

NM_012424.6

p.L246F

c.738A>T

1 paper

NM_012424.6

p.V277V

c.831T>C

1 paper

NM_012424.6

p.R220Q

c.659G>A

2 papers

NM_012424.6

p.R220W

c.658C>T

1 paper

NM_012424.6

p.A208S

c.622G>T

1 paper

NM_012424.6

p.T192fs

c.574_575fs

1 paper

NM_012424.6

p.S163N

c.488G>A