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.M247L

c.739A>T

Surrounding Variants

1 paper

NM_017721.5

p.M247L

c.739A>C

1 paper

NM_017721.5

p.Q246*

c.736C>T

10 papers

NM_017721.5

p.G250Splc

c.748+1G>T

2 papers

NM_017721.5

p.S238L

c.713C>T

1 paper

NM_017721.5

p.A235A

c.705C>T

1 paper

NM_017721.5

p.A235T

c.703G>A

1 paper

NM_017721.5

p.A233V

c.698C>T

1 paper

NM_017721.5

p.S232S

c.696T>G

1 paper

NM_017721.5

p.S232Y

c.695C>A

1 paper

NM_017721.5

p.L228L

c.684G>T

1 paper

NM_017721.5

p.L228L

c.682C>T

1 paper

NM_017721.5

p.R225_V226ins1

c.675_676insCAA