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

7 papers

NM_201548.5

p.F52F

c.156C>T

Surrounding Variants

1 paper

NM_201548.5

p.F52L

c.156C>G

6 papers

NM_201548.5

p.F52_E53insFs

c.156_157insT

1 paper

NM_201548.5

p.F52L

c.156C>A

5 papers

NM_201548.5

p.E53*

c.157G>T

1 paper

NM_201548.5

p.E53K

c.157G>A

1 paper

NM_201548.5

p.F52L

c.154T>C

1 paper

NM_201548.5

p.E53A

c.158A>C

1 paper

NM_201548.5

p.E53_I54ins1

c.159_160insTAA

1 paper

NM_201548.5

p.E53ins0

c.157_159dupGAG

1 paper

NM_201548.5

p.I54I

c.162C>A

1 paper

NM_201548.5

p.G55R

c.163G>C

2 papers

NM_201548.5

p.G55R

c.163G>A