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.L505delFs

c.1514delT

Surrounding Variants

1 paper

NM_001378615.1

p.L505_L506delFs

c.1515_1518del4

1 paper

NM_001378615.1

p.L505fs

c.1513_1514fs

1 paper

NM_001378615.1

p.L505delFs

c.1514_1515delTG

10 papers

NM_001378615.1

p.K507E

c.1519A>G

2 papers

NM_001378615.1

p.K501_D502del1

c.1503_1505delAGA

1 paper

NM_001378615.1

p.E500_K501ins6

c.1498_1502ins18

1 paper

NM_001378615.1

p.E500fs

c.1498_1499fs

1 paper

NM_001378615.1

p.Q499delFs

c.1497delA

1 paper

NM_001378615.1

p.E498_L506del9

c.1492_1517del27

1 paper

NM_001378615.1

p.A497T

c.1489G>A

4 papers

NM_001378615.1

p.W513R

c.1537T>A

4 papers

NM_001378615.1

p.W513R

c.1537T>C