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.P372S

c.1114C>T

Surrounding Variants

1 paper

NM_001330585.2

p.V371I

c.1111G>A

1 paper

NM_001330585.2

p.T374S

c.1120A>T

1 paper

NM_001330585.2

p.T374S

c.1121C>G

1 paper

NM_001330585.2

p.R362*

c.1084C>T

1 paper

NM_001330585.2

p.P357_P358del2

c.1069_1073del6

1 paper

NM_001330585.2

p.P357insFs

c.1069_1070insAC

1 paper

NM_001330585.2

p.V376Splc

c.1126+40G>A

1 paper

NM_001330585.2

p.Q348L

c.1043A>T

1 paper

NM_001330585.2

p.Q344fs

c.1030_1031fs

1 paper

NM_001330585.2

p.L341M

c.1021C>A

1 paper

NM_001330585.2

p.P378_T379del2

c.1132_1136del6

1 paper

NM_001330585.2

p.R391S

c.1173G>T