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.M1insFs

c.3dupG

Surrounding Variants

1 paper

NM_001330585.2

p.M1insFs

c.2dupT

1 paper

NM_001330585.2

p.M1delFs

c.2delA

1 paper

NM_001330585.2

p.M1T

c.2T>C

1 paper

NM_001330585.2

p.G15D

c.44G>A

1 paper

NM_001330585.2

p.V18M

c.52G>A

1 paper

NM_001330585.2

p.A19V

c.56C>T

1 paper

NM_001330585.2

p.L26P

c.77T>C

1 paper

NM_001330585.2

p.P32_E33delFs

c.96_97delCA

4 papers

NM_001330585.2

p.M35T

c.104T>C

3 papers

NM_001330585.2

p.M35I

c.105G>T

3 papers

NM_001330585.2

p.M35I

c.105G>C

3 papers

NM_001330585.2

p.M35I

c.105G>A