Varaico: Literature-Extracted Genetic Variants

CERK

70 papers

RefSeq Summary

CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis,...

Pfam Domains

PH_CERKaa 10–119UCSCCeramide kinase PH domain

DAGK_cataa 132–274UCSCDiacylglycerol kinase catalytic domain

CERK_Caa 286–536UCSCCeramide kinase C-terminal domain

Gene Aliases

HGNC Name

ceramide kinase

HGNC Alias Symbols

hCERK; FLJ23239; dA59H18.3; DKFZp434E0211; FLJ21430; KIAA1646; LK4; dA59H18.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022766.6

p.S357R

c.1069A>C

Surrounding Variants

1 paper

NM_022766.6

p.S357R

c.1071C>G

1 paper

NM_022766.6

p.S357R

c.1071C>A

1 paper

NM_022766.6

p.E364G

c.1091A>G

1 paper

NM_022766.6

p.A375T

c.1123G>A

1 paper

NM_022766.6

p.A375V

c.1124C>T

1 paper

NM_022766.6

p.E379delFs

c.1137delC

1 paper

NM_022766.6

p.V384I

c.1150G>A

1 paper

NM_022766.6

p.R348Q

c.1043G>A

1 paper

NM_022766.6

p.R348W

c.1042C>T

1 paper

NM_022766.6

p.K345E

c.1033A>G

1 paper

NM_022766.6

p.D343D

c.1029T>C

2 papers

NM_022766.6

p.S340A

c.1018T>G