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

2 papers

NM_001286577.2

p.R577H

c.1730G>A

Surrounding Variants

1 paper

NM_001286577.2

p.R577Splc

c.1730+1G>T

1 paper

NM_001286577.2

p.P559fs

c.1675_1676fs

1 paper

NM_001286577.2

p.T558insFs

c.1673_1674insA

1 paper

NM_001286577.2

p.T558insFs

c.1673_1674ins8

1 paper

NM_001286577.2

p.E546K

c.1636G>A

1 paper

NM_001286577.2

p.S528R

c.1584T>G

1 paper

NM_001286577.2

p.S528R

c.1584T>A

1 paper

NM_001286577.2

p.S528R

c.1582A>C

2 papers

NM_001286577.2

p.R577H

c.1730G>A

1 paper

NM_001286577.2

p.S590*

c.1769C>A

1 paper

NM_001286577.2

p.K596*

c.1786A>T

1 paper

NM_001286577.2

p.V604I

c.1810G>A