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.Q727_V728Splc

c.2181+1G>A

Surrounding Variants

1 paper

NM_001378615.1

p.Q727delFs

c.2179delC

2 papers

NM_001378615.1

p.L726P

c.2177T>C

1 paper

NM_001378615.1

p.L726R

c.2177T>G

1 paper

NM_001378615.1

p.L724delFs

c.2170delT

1 paper

NM_001378615.1

p.P721L

c.2162C>T

11 papers

NM_001378615.1

p.P721S

c.2161C>T

1 paper

NM_001378615.1

p.N719I

c.2156A>T

1 paper

NM_001378615.1

p.N719delFs

c.2157delC

2 papers

NM_001378615.1

p.Q711P

c.2132A>C

1 paper

NM_001378615.1

p.R706delFs

c.2117delG

1 paper

NM_001378615.1

p.F705C

c.2114T>G

1 paper

NM_001378615.1

p.A703V

c.2108C>T