Varaico: Literature-Extracted Genetic Variants

CC2D1A

165 papers

RefSeq Summary

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. T...

Pfam Domains

CC2D1A-B_DM14aa 140–195UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 260–315UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 352–407UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

C2aa 656–773UCSCC2 domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 1A

HGNC Alias Symbols

FLJ20241; MRT3; Freud-1; Lgd2; TAPE; Aki-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017721.5

p.A219A

c.657G>C

Surrounding Variants

1 paper

NM_017721.5

p.A221T

c.661G>A

1 paper

NM_017721.5

p.E223K

c.667G>A

1 paper

NM_017721.5

p.P224P

c.672C>G

1 paper

NM_017721.5

p.P214P

c.642G>A

1 paper

NM_017721.5

p.P214L

c.641C>T

1 paper

NM_017721.5

p.R225_V226ins1

c.675_676insCAA

1 paper

NM_017721.5

p.T212T

c.636C>A

1 paper

NM_017721.5

p.L228L

c.682C>T

1 paper

NM_017721.5

p.L228L

c.684G>T

1 paper

NM_017721.5

p.A210V

c.629C>T

1 paper

NM_017721.5

p.A210T

c.628G>A

1 paper

NM_017721.5

p.P209P

c.627T>C