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.L630fs

c.1888_1889fs

Surrounding Variants

1 paper

NM_001330585.2

p.L630delFs

c.1890delC

1 paper

NM_001330585.2

p.M636delFs

c.1908delC

1 paper

NM_001330585.2

p.H675H

c.2025C>T

1 paper

NM_001330585.2

p.L621insFs

c.1862dupT

1 paper

NM_001330585.2

p.L622M

c.1864C>A

1 paper

NM_001330585.2

p.M620fs

c.1858_1859fs

1 paper

NM_001330585.2

p.F687insFs

c.2061dupC

1 paper

NM_001330585.2

p.Q608K

c.1822C>A

1 paper

NM_001330585.2

p.D603_L604insG

c.1807_1811ins3

1 paper

NM_001330585.2

p.E592delFs

c.1774_1775delTC

1 paper

NM_001330585.2

p.D714N

c.2140G>A

1 paper

NM_001330585.2

p.V720M

c.2158G>A