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.T368A

c.1102A>G

Surrounding Variants

1 paper

NM_001378615.1

p.Q369delFs

c.1107delG

1 paper

NM_001378615.1

p.E370fs

c.1108_1109fs

1 paper

NM_001378615.1

p.E370E

c.1110G>A

10 papers

NM_001378615.1

p.E376A

c.1127A>C

1 paper

NM_001378615.1

p.K358_P359insFs

c.1074_1075dupGC

1 paper

NM_001378615.1

p.P356H

c.1067C>A

1 paper

NM_001378615.1

p.L380insFs

c.1138_1139insA

1 paper

NM_001378615.1

p.P356S

c.1066C>T

1 paper

NM_001378615.1

p.N355D

c.1063A>G

1 paper

NM_001378615.1

p.Y381F

c.1142A>T

1 paper

NM_001378615.1

p.G348D

c.1043G>A

1 paper

NM_001378615.1

p.G348_A352del5

c.1042_1055del15