Varaico: Literature-Extracted Genetic Variants

CC2D1B

1p32.3 (UCSC)GTEx

61 papers

Pfam Domains

CC2D1A-B_DM14aa 170–225UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 283–338UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 388–443UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 540–595UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

C2aa 699–817UCSCC2 domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 1B

HGNC Alias Symbols

KIAA1836; Freud-2; Lgd1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330585.2

p.R537Q

c.1610G>A

Surrounding Variants

1 paper

NM_001330585.2

p.R537W

c.1609C>T

1 paper

NM_001330585.2

p.R543W

c.1627C>T

1 paper

NM_001330585.2

p.R543Q

c.1628G>A

1 paper

NM_001330585.2

p.K549M

c.1646A>T

1 paper

NM_001330585.2

p.L554V

c.1660C>G

1 paper

NM_001330585.2

p.E555V

c.1664A>T

1 paper

NM_001330585.2

p.P512A

c.1534C>G

1 paper

NM_001330585.2

p.V496L

c.1486G>T

1 paper

NM_001330585.2

p.V496L

c.1486G>C

1 paper

NM_001330585.2

p.E592delFs

c.1774_1775delTC

1 paper

NM_001330585.2

p.D603_L604insG

c.1807_1811ins3

1 paper

NM_001330585.2

p.Q608K

c.1822C>A