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

3 papers

NM_001378615.1

p.R1528delFs

c.4582_4583delCG

Surrounding Variants

7 papers

NM_001378615.1

p.R1528C

c.4582C>T

3 papers

NM_001378615.1

p.R1528fs

c.4582_4583fs

4 papers

NM_001378615.1

p.T1526N

c.4577C>A

9 papers

NM_001378615.1

p.R1528H

c.4583G>A

2 papers

NM_001378615.1

p.L1533P

c.4598T>C

2 papers

NM_001378615.1

p.L1534V

c.4600T>G

4 papers

NM_001378615.1

p.N1520S

c.4559A>G

1 paper

NM_001378615.1

p.W1519*

c.4557G>A

1 paper

NM_001378615.1

p.W1519*

c.4556G>A

6 papers

NM_001378615.1

p.W1519R

c.4555T>A

6 papers

NM_001378615.1

p.W1519R

c.4555T>C

3 papers

NM_001378615.1

p.W1519G

c.4555T>G