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.T1114T

c.3342G>A

Surrounding Variants

9 papers

NM_001378615.1

p.T1114M

c.3341C>T

1 paper

NM_001378615.1

p.H1113R

c.3338A>G

7 papers

NM_001378615.1

p.T1116M

c.3347C>T

1 paper

NM_001378615.1

p.A1117D

c.3350C>A

1 paper

NM_001378615.1

p.E1118K

c.3352G>A

17 papers

NM_001378615.1

p.P1122S

c.3364C>T

1 paper

NM_001378615.1

p.S1106fs

c.3316_3317fs

6 papers

NM_001378615.1

p.E1126K

c.3376G>A

1 paper

NM_001378615.1

p.L1128P

c.3383T>C

1 paper

NM_001378615.1

p.L1098*

c.3293T>G

2 papers

NM_001378615.1

p.V1097F

c.3289G>T

6 papers

NM_001378615.1

p.V1097fs

c.3289_3290fs