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

2 papers

NM_022766.6

p.T248T

c.744C>T

Surrounding Variants

1 paper

NM_022766.6

p.S247F

c.740C>T

1 paper

NM_022766.6

p.D253D

c.759C>T

1 paper

NM_022766.6

p.D253_T256del4

c.757_767del12

1 paper

NM_022766.6

p.V271A

c.812T>C

1 paper

NM_022766.6

p.R282H

c.845G>A

1 paper

NM_022766.6

p.V285M

c.853G>A

1 paper

NM_022766.6

p.Y293Y

c.879C>T

2 papers

NM_022766.6

p.L306F

c.918G>T

2 papers

NM_022766.6

p.L306F

c.918G>C

1 paper

NM_022766.6

p.P222S

c.664C>T

1 paper

NM_022766.6

p.G216V

c.647G>T

1 paper

NM_022766.6

p.S214S

c.642C>T