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

1–12 of 98 variants

4 papers

NM_022766.6

p.G475W

c.1423G>T

3 papers

NM_022766.6

p.G198D

c.593G>A

3 papers

NM_022766.6

p.V338G

c.1013T>G

2 papers

NM_022766.6

p.G2A

c.5G>C

2 papers

NM_022766.6

p.P27A

c.79C>G

2 papers

NM_022766.6

p.D48Splc

c.143-1G>A

2 papers

NM_022766.6

p.V52_P53insFs

c.156_157insT

2 papers

NM_022766.6

p.T118T

c.354C>A

2 papers

NM_022766.6

p.F140delFs

c.420delA

2 papers

NM_022766.6

p.P156_L157insT

c.466_470ins3

2 papers

NM_022766.6

p.T248T

c.744C>T

2 papers

NM_022766.6

p.L306F

c.918G>T