Varaico: Literature-Extracted Genetic Variants

CC2D2A

366 papers

RefSeq Summary

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert synd...

Pfam Domains

DUF5523aa 131–383UCSCFamily of unknown function (DUF5523)

CC2D2AN-C2aa 645–819UCSCCC2D2A N-terminal C2 domain

CEPT76_peptidaseaa 1349–1465UCSCCEP76 peptidase-like domain

CEP76_Caa 1489–1618UCSCCentrosomal protein of 76 kDa C-terminal domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 2A

HGNC Alias Symbols

KIAA1345; MKS6; JBTS9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378615.1

p.I1006N

c.3017T>A

Surrounding Variants

1 paper

NM_001378615.1

p.I1006_S1010del5

c.3016_3029del15

1 paper

NM_001378615.1

p.G1008G

c.3024C>T

1 paper

NM_001378615.1

p.S1005Splc

c.3015-12T>G

1 paper

NM_001378615.1

p.F1012I

c.3034T>A

1 paper

NM_001378615.1

p.A1015S

c.3043G>T

1 paper

NM_001378615.1

p.K1018insFs

c.3053dupA

1 paper

NM_001378615.1

p.R1019G

c.3055C>G

14 papers

NM_001378615.1

p.R1019*

c.3055C>T

3 papers

NM_001378615.1

p.R1019Q

c.3056G>A

1 paper

NM_001378615.1

p.R1022Q

c.3065G>A

1 paper

NM_001378615.1

p.R1022_P1023delFs

c.3066_3069del4

1 paper

NM_001378615.1

p.P1023S

c.3067C>T