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.V1847M

c.5539G>A

Surrounding Variants

1 paper

NM_001286577.2

p.P1875_L1876insFs

c.5625_5626insA

1 paper

NM_001286577.2

p.S1881delins

c.5642_5643delinsTC

3 papers

NM_001286577.2

p.S1885P

c.5653T>C

2 papers

NM_001286577.2

p.L1890V

c.5668C>G

1 paper

NM_001286577.2

p.Q1895H

c.5685G>T

1 paper

NM_001286577.2

p.Q1895H

c.5685G>C

2 papers

NM_001286577.2

p.Y1899C

c.5696A>G

1 paper

NM_001286577.2

p.Q1921*

c.5761C>T

1 paper

NM_001286577.2

p.D1961Splc

c.5881+901G>A

1 paper

NM_001286577.2

p.S1828C

c.5483C>G

1 paper

NM_001286577.2

p.A1820V

c.5459C>T

1 paper

NM_001286577.2

p.A1820S

c.5458G>T