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

4 papers

NM_001330585.2

p.M35T

c.104T>C

Surrounding Variants

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

1 paper

NM_001330585.2

p.P32_E33delFs

c.96_97delCA

1 paper

NM_001330585.2

p.A42P

c.124G>C

1 paper

NM_001330585.2

p.L26P

c.77T>C

1 paper

NM_001330585.2

p.L48L

c.142C>T

1 paper

NM_001330585.2

p.L48_E49del1

c.143_145delCCA

1 paper

NM_001330585.2

p.T61S

c.182C>G

1 paper

NM_001330585.2

p.K64K

c.192G>A

1 paper

NM_001330585.2

p.G70E

c.209G>A

1 paper

NM_001330585.2

p.A72Splc

c.215-230A>T