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.K547_V548Splc

c.1642-8C>T

Surrounding Variants

1 paper

NM_017721.5

p.P549P

c.1647G>T

1 paper

NM_017721.5

p.D556N

c.1666G>A

1 paper

NM_017721.5

p.A559delFs

c.1675delG

1 paper

NM_017721.5

p.A559T

c.1675G>A

1 paper

NM_017721.5

p.A559fs

c.1675_1676fs

1 paper

NM_017721.5

p.P566P

c.1698G>A

1 paper

NM_017721.5

p.R574W

c.1720C>T

1 paper

NM_017721.5

p.R575C

c.1723C>T

1 paper

NM_017721.5

p.R575H

c.1724G>A

1 paper

NM_017721.5

p.G577S

c.1729G>A

8 papers

NM_017721.5

p.T580I

c.1739C>T

1 paper

NM_017721.5

p.K581N

c.1743G>C