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_001349653.2

p.E505V

c.1514A>T

Surrounding Variants

1 paper

NM_012424.6

p.E686K

c.2056G>A

1 paper

NM_012424.6

p.E686Q

c.2056G>C

1 paper

NM_012424.6

p.D685D

c.2055T>C

1 paper

NM_001349653.2

p.G516_S520delFs

c.1547_1559del13

1 paper

NM_001349653.2

p.E517_T521delFs

c.1551_1563del13

1 paper

NM_001349653.2

p.E517V

c.1550A>T

1 paper

NM_012424.6

p.G663A

c.1988G>C

1 paper

NM_001349654.2

p.N505I

c.1514A>T

1 paper

NM_012424.6

p.N646I

c.1937A>T

1 paper

NM_001349654.2

p.A516_L520delFs

c.1547_1559del13

1 paper

NM_012424.6

p.S644N

c.1931G>A

1 paper

NM_001349654.2

p.P517_C521delFs

c.1551_1563del13