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.C516_G520delFs

c.1547_1559del13

Surrounding Variants

1 paper

NM_001136138.4

p.N505I

c.1514A>T

NM_012424.6

p.N517I

c.1550A>T

1 paper

NM_001349654.2

p.S299delFs

c.895delA

1 paper

NM_012424.6

p.E505V

c.1514A>T

1 paper

NM_001136138.4

p.S516_E520delFs

c.1547_1559del13

1 paper

NM_001136138.4

p.L517_P521delFs

c.1551_1563del13

1 paper

NM_012424.6

p.P495L

c.1484C>T

1 paper

NM_012424.6

p.A546P

c.1636G>C

1 paper

NM_012424.6

p.Q481E

c.1441C>G

1 paper

NM_001349653.2

p.S299delFs

c.895delT

1 paper

NM_012424.6

p.P471L

c.1412C>T

1 paper

NM_012424.6

p.P561R

c.1682C>G

1 paper

NM_012424.6

p.G463D

c.1388G>A