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

Selected Variant

1 paper

NM_201548.5

p.R105W

c.313C>T

Surrounding Variants

1 paper

NM_201548.5

p.R105Q

c.314G>A

11 papers

NM_201548.5

p.R106C

c.316C>T

25 papers

NM_201548.5

p.R106S

c.316C>A

1 paper

NM_201548.5

p.C107del1

c.319_320delACA

1 paper

NM_201548.5

p.Q112*

c.334C>T

1 paper

NM_201548.5

p.R106_Q111del6

c.316_332del18

1 paper

NM_201548.5

p.E94*

c.280G>T

1 paper

NM_201548.5

p.T116A

c.346A>G

1 paper

NM_201548.5

p.F92delFs

c.274delA

4 papers

NM_201548.5

p.E91*

c.271G>T

8 papers

NM_201548.5

p.G119D

c.356G>A

1 paper

NM_201548.5

p.L122F

c.364C>T