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

1–12 of 716 variants

18 papers

NM_001378615.1

p.R1028delFs

c.3084delG

18 papers

NM_001378615.1

p.D1556V

c.4667A>T

17 papers

NM_001378615.1

p.P1122S

c.3364C>T

14 papers

NM_001378615.1

p.R1019*

c.3055C>T

13 papers

NM_001378615.1

p.W1511R

c.4531T>C

12 papers

NM_001378615.1

p.R950*

c.2848C>T

12 papers

NM_001378615.1

p.W1511R

c.4531T>A

11 papers

NM_001378615.1

p.E229del1

c.685_686delGAA

11 papers

NM_001378615.1

p.P721S

c.2161C>T

10 papers

NM_001378615.1

p.E376A

c.1127A>C

10 papers

NM_001378615.1

p.K507E

c.1519A>G

10 papers

NM_001378615.1

p.K1029fs

c.3085_3086fs