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.T308fs

c.922_923fs

Surrounding Variants

3 papers

NM_001030311.3

p.C333*

c.999C>A

1 paper

NM_201548.5

p.V301_C307delFs

c.901_919del19

1 paper

NM_201548.5

p.K314E

c.940A>G

1 paper

NM_001030311.3

p.K340delFs

c.1020delC

1 paper

NM_201548.5

p.R317H

c.950G>A

1 paper

NM_201548.5

p.G299insFs

c.896_897insT

1 paper

NM_201548.5

p.F318Y

c.953T>A

1 paper

NM_201548.5

p.G299Splc

c.896-1G>T

1 paper

NM_201548.5

p.G319E

c.956G>A

1 paper

NM_201548.5

p.G319Fs

c.956delinsATGTGATAFs

1 paper

NM_001030311.3

p.F344_S347insFs

c.1032_1039dup8

4 papers

NM_001030311.3

p.M349fs

c.1045_1046fs

NM_201548.5

p.M323fs

c.967_968fs