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.L140delFs

c.420delA

Surrounding Variants

1 paper

NM_201548.5

p.I141L

c.421A>C

1 paper

NM_201548.5

p.L140fs

c.418_419fs

1 paper

NM_201548.5

p.N142fs

c.424_425fs

1 paper

NM_201548.5

p.L140V

c.418C>G

1 paper

NM_201548.5

p.N142_L143delFs

c.424_427del4

1 paper

NM_201548.5

p.N142_S144delFs

c.426_430del5

1 paper

NM_201548.5

p.K134delFs

c.400_401delTT

1 paper

NM_201548.5

p.L133_K134delFs

c.397_401del5

2 papers

NM_201548.5

p.L133P

c.398T>C

1 paper

NM_201548.5

p.D149N

c.445G>A

3 papers

NM_201548.5

p.I150fs

c.448_449fs

1 paper

NM_201548.5

p.K128_N131delFs

c.383_392del10