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.P1688S

c.5062C>T

Surrounding Variants

3 papers

NM_001286577.2

p.Q1694H

c.5082G>T

3 papers

NM_001286577.2

p.Q1694H

c.5082G>C

2 papers

NM_001286577.2

p.R1697Splc

c.5090+5G>C

1 paper

NM_001286577.2

p.R1697Splc

c.5090+5G>A

1 paper

NM_001286577.2

p.E1673_S1674insA

c.5017_5021ins3

1 paper

NM_001286577.2

p.E1673_S1674ins8

c.5017_5021ins24

1 paper

NM_001286577.2

p.A1671T

c.5011G>A

1 paper

NM_001286577.2

p.S1652fs

c.4954_4955fs

1 paper

NM_001286577.2

p.D1730Y

c.5188G>T

5 papers

NM_001286577.2

p.G1743C

c.5227G>T

3 papers

NM_001286577.2

p.Y1745D

c.5233T>G

3 papers

NM_001286577.2

p.G1756E

c.5267G>A