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.I1965M

c.5895C>G

Surrounding Variants

2 papers

NM_001286577.2

p.D1961Splc

c.5882-2A>G

3 papers

NM_001286577.2

p.R1977*

c.5929C>T

1 paper

NM_001286577.2

p.A1978T

c.5932G>A

1 paper

NM_001286577.2

p.R2000*

c.5998C>T

1 paper

NM_001286577.2

p.E2025*

c.6073G>T

1 paper

NM_001286577.2

p.H2035L

c.6104A>T

1 paper

NM_001286577.2

p.A2041V

c.6122C>T

1 paper

NM_001286577.2

p.N2075K

c.6225T>G

1 paper

NM_001286577.2

p.N2075K

c.6225T>A

2 papers

NM_001286577.2

p.T2079M

c.6236C>T

1 paper

NM_001286577.2

p.W2087C

c.6261G>T

1 paper

NM_001286577.2

p.W2087C

c.6261G>C