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.D782E

c.2346T>G

Surrounding Variants

1 paper

NM_001136138.4

p.A768delFs

c.2303_2304delCT

1 paper

NM_012424.6

p.A769V

c.2306C>T

1 paper

NM_012424.6

p.Y768delFs

c.2303_2304delAT

1 paper

NM_001349671.2

p.T299delFs

c.895delA

1 paper

NM_012424.6

p.S756F

c.2267C>T

1 paper

NM_001349671.2

p.L287delFs

c.859delC

1 paper

NM_012424.6

p.I749M

c.2247A>G

1 paper

NM_012424.6

p.Q740*

c.2218C>T

1 paper

NM_001349654.2

p.P517_C521delFs

c.1551_1563del13

1 paper

NM_001349654.2

p.A516_L520delFs

c.1547_1559del13

1 paper

NM_001349654.2

p.N505I

c.1514A>T

1 paper

NM_001349653.2

p.E517V

c.1550A>T