Varaico: Literature-Extracted Genetic Variants

CEP250

178 papers

RefSeq Summary

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centriole...

Pfam Domains

Rootletinaa 39–213UCSCCiliary rootlet component, centrosome cohesion

CC_CEP250aa 2134–2231UCSCCEP250 coiled coil

Gene Aliases

HGNC Name

centrosomal protein 250

HGNC Alias Symbol

C-NAP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007186.6

p.Q904H

c.2712G>C

Surrounding Variants

1 paper

NM_007186.6

p.Q904H

c.2712G>T

1 paper

NM_007186.6

p.Q902*

c.2704C>T

1 paper

NM_007186.6

p.E908Q

c.2722G>C

1 paper

NM_007186.6

p.R909W

c.2725C>T

1 paper

NM_007186.6

p.E897K

c.2689G>A

1 paper

NM_007186.6

p.E888D

c.2664A>C

1 paper

NM_007186.6

p.E888D

c.2664A>T

1 paper

NM_007186.6

p.E881K

c.2641G>A

1 paper

NM_007186.6

p.R866H

c.2597G>A

3 papers

NM_007186.6

p.K925N

c.2775G>C

3 papers

NM_007186.6

p.K925N

c.2775G>T

1 paper

NM_007186.6

p.E932G

c.2795A>G