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

6 papers

NM_001378615.1

p.W1519R

c.4555T>A

Surrounding Variants

6 papers

NM_001378615.1

p.W1519R

c.4555T>C

3 papers

NM_001378615.1

p.W1519G

c.4555T>G

1 paper

NM_001378615.1

p.W1519*

c.4556G>A

1 paper

NM_001378615.1

p.R1518Q

c.4553G>A

1 paper

NM_001378615.1

p.W1519*

c.4557G>A

1 paper

NM_001378615.1

p.R1518G

c.4552C>G

6 papers

NM_001378615.1

p.R1518W

c.4552C>T

4 papers

NM_001378615.1

p.N1520S

c.4559A>G

5 papers

NM_001378615.1

p.T1517S

c.4550C>G

5 papers

NM_001378615.1

p.T1517S

c.4549A>T

1 paper

NM_001378615.1

p.H1515_R1518del4

c.4543_4553del12

1 paper

NM_001378615.1

p.R1514_H1515del2

c.4540_4544del6