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.Y1899C

c.5696A>G

Surrounding Variants

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.L1890V

c.5668C>G

1 paper

NM_001286577.2

p.Q1921*

c.5761C>T

1 paper

NM_001286577.2

p.D1961Splc

c.5881+901G>A

2 papers

NM_001286577.2

p.D1961Splc

c.5882-2A>G

1 paper

NM_001286577.2

p.I1965M

c.5895C>G

3 papers

NM_001286577.2

p.R1977*

c.5929C>T

1 paper

NM_001286577.2

p.A1978T

c.5932G>A

1 paper

NM_001286577.2

p.R2000*

c.5998C>T

1 paper

NM_001286577.2

p.E2025*

c.6073G>T

1 paper

NM_001286577.2

p.H2035L

c.6104A>T