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

6 papers

NM_201548.5

p.L122R

c.365T>G

Surrounding Variants

1 paper

NM_201548.5

p.L122F

c.364C>T

1 paper

NM_201548.5

p.I124I

c.372C>T

8 papers

NM_201548.5

p.G119D

c.356G>A

1 paper

NM_201548.5

p.C125Y

c.374G>A

18 papers

NM_201548.5

p.C125W

c.375C>G

1 paper

NM_201548.5

p.K127*

c.379A>T

1 paper

NM_201548.5

p.K128delFs

c.383delT

1 paper

NM_201548.5

p.T116A

c.346A>G

1 paper

NM_201548.5

p.N131S

c.392A>G

1 paper

NM_201548.5

p.K128_N131delFs

c.383_392del10

1 paper

NM_201548.5

p.R106_Q111del6

c.316_332del18

1 paper

NM_201548.5

p.Q112*

c.334C>T