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.D252A

c.755A>C

Surrounding Variants

1 paper

NM_001286577.2

p.E245K

c.733G>A

1 paper

NM_001286577.2

p.H240D

c.718C>G

1 paper

NM_001286577.2

p.T271S

c.811A>T

1 paper

NM_001286577.2

p.V270del1

c.808_809delTAC

1 paper

NM_001286577.2

p.P277L

c.830C>T

1 paper

NM_001286577.2

p.Q280Q

c.840G>A

1 paper

NM_001286577.2

p.S287delFs

c.859_860delGA

1 paper

NM_001286577.2

p.L306P

c.917T>C

1 paper

NM_001286577.2

p.L316F

c.946C>T

1 paper

NM_001286577.2

p.A319Splc

c.955+11A>G

1 paper

NM_001286577.2

p.P235fs

c.703_704fs

3 papers

NM_001286577.2

p.P235L

c.704C>T