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.K42R

c.125A>G

Surrounding Variants

3 papers

NM_001286577.2

p.L43R

c.128T>G

1 paper

NM_001286577.2

p.V45F

c.133G>T

1 paper

NM_001286577.2

p.P31S

c.91C>T

1 paper

NM_001286577.2

p.A53_K54insFs

c.159_160insC

1 paper

NM_001286577.2

p.S28N

c.83G>A

1 paper

NM_001286577.2

p.V61fs

c.181_182fs

1 paper

NM_001286577.2

p.V61delFs

c.181_182delAC

9 papers

NM_001286577.2

p.R62*

c.184C>T

1 paper

NM_001286577.2

p.R62_V63ins9

c.184_188ins27

1 paper

NM_001286577.2

p.R62_V63ins11

c.184_188ins33

1 paper

NM_001286577.2

p.S21insFs

c.62_63ins11

1 paper

NM_001286577.2

p.S21ins3

c.62_63ins9