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.E959delFs

c.2875delG

Surrounding Variants

2 papers

NM_001378615.1

p.E959fs

c.2875_2876fs

1 paper

NM_001378615.1

p.E956K

c.2866G>A

1 paper

NM_001378615.1

p.I961T

c.2882T>C

1 paper

NM_001378615.1

p.A966_I967insFs

c.2898_2899dupCA

12 papers

NM_001378615.1

p.R950*

c.2848C>T

1 paper

NM_001378615.1

p.I967fs

c.2899_2900fs

1 paper

NM_001378615.1

p.Q974_V975Splc

c.2923-436G>A

1 paper

NM_001378615.1

p.V975G

c.2924T>G

1 paper

NM_001378615.1

p.V979Fs

c.2935_2936delinsCFs

1 paper

NM_001378615.1

p.N981delFs

c.2943delT

1 paper

NM_001378615.1

p.R982C

c.2944C>T

1 paper

NM_001378615.1

p.E998V

c.2993A>T