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.Q1757R

c.5270A>G

Surrounding Variants

3 papers

NM_001286577.2

p.G1756E

c.5267G>A

2 papers

NM_001286577.2

p.E1766D

c.5298G>T

2 papers

NM_001286577.2

p.E1766D

c.5298G>C

3 papers

NM_001286577.2

p.Y1745D

c.5233T>G

5 papers

NM_001286577.2

p.G1743C

c.5227G>T

1 paper

NM_001286577.2

p.D1730Y

c.5188G>T

1 paper

NM_001286577.2

p.S1786L

c.5357C>T

1 paper

NM_001286577.2

p.I1790M

c.5370A>G

1 paper

NM_001286577.2

p.A1820S

c.5458G>T

1 paper

NM_001286577.2

p.A1820V

c.5459C>T

1 paper

NM_001286577.2

p.S1828C

c.5483C>G

1 paper

NM_001286577.2

p.V1847M

c.5539G>A