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.L87L

c.259C>T

Surrounding Variants

1 paper

NM_201548.5

p.L86F

c.258G>T

1 paper

NM_201548.5

p.L86F

c.258G>C

1 paper

NM_201548.5

p.Y84D

c.250T>G

4 papers

NM_201548.5

p.E91*

c.271G>T

1 paper

NM_201548.5

p.S82delFs

c.245delG

1 paper

NM_201548.5

p.S82fs

c.244_245fs

5 papers

NM_201548.5

p.D81A

c.242A>C

1 paper

NM_201548.5

p.F92delFs

c.274delA

1 paper

NM_201548.5

p.E94*

c.280G>T

2 papers

NM_201548.5

p.G80Splc

c.239-2A>G

1 paper

NM_201548.5

p.R105W

c.313C>T

1 paper

NM_201548.5

p.R105Q

c.314G>A