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_001030311.3

p.R364*

c.1090C>T

NM_201548.5

p.R338*

c.1012C>T

Surrounding Variants

1 paper

NM_001160277.2

p.W321G

c.961T>G

1 paper

NM_201548.5

p.K336T

c.1007A>C

1 paper

NM_201548.5

p.Q344*

c.1030C>T

1 paper

NM_201548.5

p.Q344L

c.1031A>T

1 paper

NM_201548.5

p.R329insFs

c.986dupG

1 paper

NM_201548.5

p.F348C

c.1043T>G

1 paper

NM_201548.5

p.A349T

c.1045G>A

1 paper

NM_201548.5

p.F348delFs

c.1042delA

1 paper

NM_201548.5

p.A349delFs

c.1045_1046delGC

1 paper

NM_201548.5

p.M323_F324insFs

c.968_972dup5

1 paper

NM_201548.5

p.G325fs

c.973_974fs

6 papers

NM_001030311.3

p.M349delFs

c.1045_1046delAT

NM_201548.5

p.M323delFs

c.967_968delAT