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

3 papers

NM_001286577.2

p.A1304fs

c.3910_3911fs

Surrounding Variants

7 papers

NM_001286577.2

p.A1304Splc

c.3911-2A>T

1 paper

NM_001286577.2

p.S1305G

c.3913A>G

2 papers

NM_001286577.2

p.A1304_S1305delFs

c.3911_3914del4

1 paper

NM_001286577.2

p.S1303*

c.3908C>G

1 paper

NM_001286577.2

p.S1303*

c.3908C>A

1 paper

NM_001286577.2

p.T1273S

c.3818C>G

1 paper

NM_001286577.2

p.T1273S

c.3817A>T

1 paper

NM_001286577.2

p.R1249*

c.3745C>T

1 paper

NM_001286577.2

p.Q1247H

c.3741G>T

1 paper

NM_001286577.2

p.Q1247fs

c.3739_3740fs

2 papers

NM_001286577.2

p.Q1247H

c.3741G>C

1 paper

NM_001286577.2

p.F1241V

c.3721T>G