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.A182A

c.546T>A

Surrounding Variants

1 paper

NM_201548.5

p.K180delFs

c.540delT

1 paper

NM_201548.5

p.Y186C

c.557A>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.Y187*

c.561T>A

3 papers

NM_201548.5

p.K189fs

c.565_566fs

1 paper

NM_201548.5

p.Q176L

c.527A>T

2 papers

NM_201548.5

p.K189delFs

c.566delT

1 paper

NM_201548.5

p.V190I

c.568G>A

1 paper

NM_201548.5

p.V190delFs

c.568delC

2 papers

NM_201548.5

p.K189_V190Fs

c.566_569delinsGTGFs

3 papers

NM_201548.5

p.Y187_V190del0

c.560_568del9