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.R317H

c.950G>A

Surrounding Variants

1 paper

NM_201548.5

p.F318Y

c.953T>A

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.K340delFs

c.1020delC

1 paper

NM_201548.5

p.K314E

c.940A>G

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

1 paper

NM_201548.5

p.M323V

c.967A>G

1 paper

NM_201548.5

p.F320_A322del3

c.958_965del9

6 papers

NM_001030311.3

p.M349delFs

c.1045_1046delAT

NM_201548.5

p.M323delFs

c.967_968delAT

1 paper

NM_201548.5

p.M323_F324insFs

c.968_972dup5

1 paper

NM_201548.5

p.G325fs

c.973_974fs