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.E379delFs

c.1137delC

Surrounding Variants

1 paper

NM_022766.6

p.V384I

c.1150G>A

2 papers

NM_022766.6

p.S408A

c.1222T>G

1 paper

NM_022766.6

p.P409L

c.1226C>T

2 papers

NM_022766.6

p.R424W

c.1270C>T

2 papers

NM_022766.6

p.S427A

c.1279T>G

1 paper

NM_022766.6

p.L435F

c.1303C>T

1 paper

NM_022766.6

p.E451K

c.1351G>A

1 paper

NM_022766.6

p.V455I

c.1363G>A

1 paper

NM_022766.6

p.H464Y

c.1390C>T

1 paper

NM_022766.6

p.L472F

c.1414C>T

4 papers

NM_022766.6

p.G475W

c.1423G>T

1 paper

NM_022766.6

p.G475A

c.1424G>C