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.L937F

c.2811G>C

Surrounding Variants

1 paper

NM_012424.6

p.L937F

c.2811G>T

1 paper

NM_001136138.4

p.R928T

c.2783G>C

1 paper

NM_001349653.2

p.R747P

c.2240G>C

NM_012424.6

p.R928P

c.2783G>C

3 papers

NM_001287219.3

p.G692S

c.2074G>A

NM_012424.6

p.G904S

c.2710G>A

1 paper

NM_012424.6

p.K892fs

c.2674_2675fs

1 paper

NM_012424.6

p.L876_E877del1

c.2628_2630delAGA

1 paper

NM_012424.6

p.T946S

c.2836A>T

1 paper

NM_001349653.2

p.S768delFs

c.2303_2304delGC

1 paper

NM_012424.6

p.S957C

c.2870C>G

1 paper

NM_001349663.2

p.S495R

c.1483A>C

1 paper

NM_001349663.2

p.S495R

c.1485C>A

1 paper

NM_001349663.2

p.S495R

c.1485C>G