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.M253T

c.758T>C

Surrounding Variants

4 papers

NM_001030311.3

p.M279delFs

c.836delA

NM_201548.5

p.M253delFs

c.758delA

2 papers

NM_001030311.3

p.M279fs

c.835_836fs

2 papers

NM_201548.5

p.E254*

c.760G>T

NM_001030311.3

p.E280*

c.838G>T

1 paper

NM_001030311.3

p.G278G

c.834G>A

1 paper

NM_201548.5

p.G252A

c.755G>C

1 paper

NM_201548.5

p.G252R

c.754G>A

1 paper

NM_201548.5

p.N250K

c.750T>A

64 papers

NM_201548.5

p.R257*

c.769C>T

NM_001030311.3

p.R283*

c.847C>T

NM_001160277.2

p.R239*

c.715C>T

1 paper

NM_201548.5

p.N250_R257Fs

c.749_769delinsCATGAFs

1 paper

NM_201548.5

p.R257Q

c.770G>A

1 paper

NM_001030311.3

p.T286delFs

c.858delA

3 papers

NM_001030311.3

p.L271P

c.812T>C

NM_201548.5

p.L245P

c.734T>C