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.D123E

c.369T>A

Surrounding Variants

1 paper

NM_001330585.2

p.D123N

c.367G>A

1 paper

NM_001330585.2

p.E126Q

c.376G>C

1 paper

NM_001330585.2

p.E120A

c.359A>C

1 paper

NM_001330585.2

p.T119_E120delFs

c.357_358delCA

1 paper

NM_001330585.2

p.E126_V127delFs

c.378_379delCC

1 paper

NM_001330585.2

p.V127delFs

c.381delT

1 paper

NM_001330585.2

p.P130S

c.388C>T

1 paper

NM_001330585.2

p.G114S

c.340G>A

1 paper

NM_001330585.2

p.S133S

c.399T>G

1 paper

NM_001330585.2

p.V112delFs

c.335_336delGA

1 paper

NM_001330585.2

p.E111*

c.331G>T

1 paper

NM_001330585.2

p.Q110*

c.328C>T