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.Q176L

c.527A>T

Surrounding Variants

1 paper

NM_201548.5

p.N174S

c.521A>G

1 paper

NM_201548.5

p.H178Q

c.534C>G

1 paper

NM_201548.5

p.H178Q

c.534C>A

1 paper

NM_201548.5

p.L172F

c.514C>T

1 paper

NM_201548.5

p.K180delFs

c.540delT

1 paper

NM_201548.5

p.I171T

c.512T>C

1 paper

NM_201548.5

p.A182A

c.546T>A

1 paper

NM_201548.5

p.P166_K167delFs

c.498_499delTC

7 papers

NM_201548.5

p.P166L

c.497C>T

1 paper

NM_201548.5

p.Y186C

c.557A>G

1 paper

NM_201548.5

p.Y187*

c.561T>A

1 paper

NM_201548.5

p.R165G

c.493A>G