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.E229K

c.685G>A

Surrounding Variants

1 paper

NM_001378615.1

p.E227fs

c.679_680fs

1 paper

NM_001378615.1

p.P231L

c.692C>T

1 paper

NM_001378615.1

p.E227delFs

c.679_680delGA

2 papers

NM_001378615.1

p.G225G

c.675G>A

11 papers

NM_001378615.1

p.E229del1

c.685_686delGAA

1 paper

NM_001378615.1

p.Q233*

c.697C>T

1 paper

NM_001378615.1

p.G234R

c.700G>A

1 paper

NM_001378615.1

p.G234R

c.700G>C

1 paper

NM_001378615.1

p.E223_G225del0

c.667_675del9

1 paper

NM_001378615.1

p.E222K

c.664G>A

1 paper

NM_001378615.1

p.E238delFs

c.712delG

1 paper

NM_001378615.1

p.Q220_E222del0

c.660_665del6