Varaico: Literature-Extracted Genetic Variants

CERKL

257 papers

RefSeq Summary

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, ...

Pfam Domains

PH_CERKaa 48–155UCSCCeramide kinase PH domain

DAGK_cataa 168–226UCSCDiacylglycerol kinase catalytic domain

DAGK_cataa 238–335UCSCDiacylglycerol kinase catalytic domain

Gene Aliases

HGNC Name

CERK like autophagy regulator

HGNC Previous Symbol

RP26

Papers

RefSeq ID

Protein change

DNA change

1–12 of 322 variants

52 papers

NM_201548.5

p.R257*

c.769C>T

45 papers

NM_201548.5

p.L283F

c.847C>T

25 papers

NM_201548.5

p.R106S

c.316C>A

21 papers

NM_201548.5

p.G80Splc

c.238+1G>A

18 papers

NM_201548.5

p.C125W

c.375C>G

18 papers

NM_001030311.3

p.R283*

c.847C>T

11 papers

NM_201548.5

p.R106C

c.316C>T

9 papers

NM_201548.5

p.G161Splc

c.481+2T>G

8 papers

NM_201548.5

p.E65*

c.193G>T

8 papers

NM_201548.5

p.G119D

c.356G>A

7 papers

NM_201548.5

p.F52F

c.156C>T

7 papers

NM_201548.5

p.P166L

c.497C>T