Varaico: Literature-Extracted Genetic Variants

C2CD3

192 papers

RefSeq Summary

This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also requi...

Pfam Domains

C2_C2CD3_Naa 26–170UCSCN-terminal C2 domain of C2CD3 protein

C2aa 808–918UCSCC2 domain

C2aa 1636–1747UCSCC2 domain

Gene Aliases

HGNC Name

C2 domain containing 3 centriole elongation regulator

HGNC Alias Symbol

DKFZP586P0123

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001286577.2

p.G1025delFs

c.3074delC

Surrounding Variants

1 paper

NM_001286577.2

p.D1028delFs

c.3082delC

5 papers

NM_001286577.2

p.C1029G

c.3085T>G

1 paper

NM_001286577.2

p.C1029R

c.3085T>C

1 paper

NM_001286577.2

p.A1021E

c.3062C>A

1 paper

NM_001286577.2

p.P1036S

c.3106C>T

1 paper

NM_001286577.2

p.V1037L

c.3109G>C

1 paper

NM_001286577.2

p.H1039H

c.3117C>T

1 paper

NM_001286577.2

p.M1002K

c.3005T>A

1 paper

NM_001286577.2

p.R997Q

c.2990G>A

1 paper

NM_001286577.2

p.G1054fs

c.3160_3161fs

1 paper

NM_001286577.2

p.I1055F

c.3163A>T

1 paper

NM_001286577.2

p.C1067Y

c.3200G>A