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.S735N

c.2204G>A

Surrounding Variants

1 paper

NM_001330585.2

p.P727S

c.2179C>T

1 paper

NM_001330585.2

p.V720M

c.2158G>A

1 paper

NM_001330585.2

p.D714N

c.2140G>A

1 paper

NM_001330585.2

p.F687insFs

c.2061dupC

1 paper

NM_001330585.2

p.G762_F763delFs

c.2286_2287delAG

1 paper

NM_001330585.2

p.H675H

c.2025C>T

1 paper

NM_001330585.2

p.E802V

c.2405A>T

1 paper

NM_001330585.2

p.M636delFs

c.1908delC

1 paper

NM_001330585.2

p.L630delFs

c.1890delC

1 paper

NM_001330585.2

p.L630fs

c.1888_1889fs

1 paper

NM_001330585.2

p.E810_V811Splc

c.2430+231A>G

1 paper

NM_001330585.2

p.L621insFs

c.1862dupT