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.T118T

c.354C>A

Surrounding Variants

1 paper

NM_022766.6

p.M122R

c.365T>G

1 paper

NM_022766.6

p.H113H

c.339C>T

1 paper

NM_022766.6

p.H95Y

c.283C>T

1 paper

NM_022766.6

p.R94Q

c.281G>A

1 paper

NM_022766.6

p.T85_V86delFs

c.253_256del4

1 paper

NM_022766.6

p.T85fs

c.253_254fs

1 paper

NM_022766.6

p.W75S

c.224G>C

1 paper

NM_022766.6

p.Q70K

c.208C>A

1 paper

NM_022766.6

p.G67R

c.199G>C

1 paper

NM_022766.6

p.G67R

c.199G>A

1 paper

NM_022766.6

p.V60D

c.179T>A

1 paper

NM_022766.6

p.E56*

c.166G>T