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.Q74*

c.220C>T

Surrounding Variants

2 papers

NM_201548.5

p.Q74fs

c.220_221fs

2 papers

NM_201548.5

p.Q74fs

c.220_221fs

4 papers

NM_201548.5

p.Q74delFs

c.222delC

1 paper

NM_201548.5

p.R71_P72insFs

c.211_215dup5

1 paper

NM_201548.5

p.P75H

c.224C>A

1 paper

NM_201548.5

p.R71P

c.212G>C

1 paper

NM_201548.5

p.R69W

c.205C>T

1 paper

NM_201548.5

p.A67_L68insFs

c.199_202dup4

5 papers

NM_201548.5

p.L68fs

c.202_203fs

2 papers

NM_201548.5

p.G80Splc

c.238+1G>T

21 papers

NM_201548.5

p.G80Splc

c.238+1G>A

4 papers

NM_201548.5

p.R66_A67insFs

c.197_200dup4