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.R432W

c.1294C>T

Surrounding Variants

1 paper

NM_001330585.2

p.R429*

c.1285C>T

1 paper

NM_001330585.2

p.H428N

c.1282C>A

2 papers

NM_001330585.2

p.R426P

c.1277G>C

1 paper

NM_001330585.2

p.P447P

c.1341C>A

1 paper

NM_001330585.2

p.G450V

c.1349G>T

1 paper

NM_001330585.2

p.R412delFs

c.1235delC

1 paper

NM_001330585.2

p.R403P

c.1208G>C

1 paper

NM_001330585.2

p.R403W

c.1207C>T

1 paper

NM_001330585.2

p.Q401*

c.1201C>T

1 paper

NM_001330585.2

p.A479A

c.1437C>A

1 paper

NM_001330585.2

p.A398V

c.1193C>T

1 paper

NM_001330585.2

p.Y395*

c.1185C>G