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.C1114C

c.3342C>T

Surrounding Variants

1 paper

NM_001286577.2

p.G1106S

c.3316G>A

1 paper

NM_001286577.2

p.A1096V

c.3287C>T

1 paper

NM_001286577.2

p.L1093fs

c.3277_3278fs

1 paper

NM_001286577.2

p.L1083F

c.3249G>T

1 paper

NM_001286577.2

p.L1083F

c.3249G>C

1 paper

NM_001286577.2

p.S1075R

c.3225T>G

1 paper

NM_001286577.2

p.S1075R

c.3225T>A

1 paper

NM_001286577.2

p.S1075R

c.3223A>C

1 paper

NM_001286577.2

p.P1071L

c.3212C>T

1 paper

NM_001286577.2

p.C1067Y

c.3200G>A

1 paper

NM_001286577.2

p.I1055F

c.3163A>T

1 paper

NM_001286577.2

p.G1054fs

c.3160_3161fs