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

3 papers

NM_201548.5

p.W151G

c.451T>G

Surrounding Variants

6 papers

NM_201548.5

p.I150_W151delFs

c.450_451delAT

1 paper

NM_201548.5

p.I150M

c.450A>G

3 papers

NM_201548.5

p.I150fs

c.448_449fs

1 paper

NM_201548.5

p.D149N

c.445G>A

5 papers

NM_201548.5

p.K156_K157insT

c.466_470ins3

1 paper

NM_201548.5

p.F155_K156insFs

c.465_468dup4

1 paper

NM_201548.5

p.N142_S144delFs

c.426_430del5

1 paper

NM_201548.5

p.N142_L143delFs

c.424_427del4

1 paper

NM_201548.5

p.L159_A160insTAA

c.475_479ins9

1 paper

NM_201548.5

p.N142fs

c.424_425fs

1 paper

NM_201548.5

p.I141L

c.421A>C

3 papers

NM_201548.5

p.L140delFs

c.420delA