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.V286delFs

c.858delA

Surrounding Variants

2 papers

NM_201548.5

p.P287fs

c.859_860fs

1 paper

NM_001160277.2

p.P269_H270delFs

c.805_809del5

45 papers

NM_201548.5

p.L283F

c.847C>T

1 paper

NM_201548.5

p.V289_T293delFs

c.866_879del14

3 papers

NM_201548.5

p.L279delFs

c.836delA

1 paper

NM_201548.5

p.L294F

c.882G>T

1 paper

NM_201548.5

p.L294F

c.882G>C

1 paper

NM_201548.5

p.I297L

c.889A>C

4 papers

NM_201548.5

p.I297T

c.890T>C

1 paper

NM_201548.5

p.S275C

c.824C>G

2 papers

NM_001030311.3

p.G300Splc

c.899-1G>A

1 paper

NM_201548.5

p.G299Splc

c.896-1G>T