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.A103E

c.308C>A

Surrounding Variants

1 paper

NM_001330585.2

p.E96_E97del2

c.286_290del6

1 paper

NM_001330585.2

p.G98R

c.292G>C

1 paper

NM_001330585.2

p.G98R

c.292G>A

2 papers

NM_001330585.2

p.E96_E97ins0

c.288_290dupGGA

2 papers

NM_001330585.2

p.E96_E97del1

c.288_290delTCC

1 paper

NM_001330585.2

p.V90_E92del0

c.270_275del6

1 paper

NM_001330585.2

p.V90_E91del0

c.268_273del6

1 paper

NM_001330585.2

p.M76L

c.226A>T

1 paper

NM_001330585.2

p.A72Splc

c.215-230A>T

1 paper

NM_001330585.2

p.Q110*

c.328C>T

1 paper

NM_001330585.2

p.E111*

c.331G>T

1 paper

NM_001330585.2

p.V112delFs

c.335_336delGA