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

1–12 of 487 variants

10 papers

NM_017721.5

p.G250Splc

c.748+1G>T

9 papers

NM_017721.5

p.T801M

c.2402C>T

8 papers

NM_017721.5

p.T580I

c.1739C>T

8 papers

NM_017721.5

p.G781E

c.2342G>A

7 papers

NM_017721.5

p.V449M

c.1345G>A

7 papers

NM_017721.5

p.G781V

c.2342G>T

7 papers

NM_017721.5

p.E910K

c.2728G>A

6 papers

NM_017721.5

p.P192L

c.575C>T

6 papers

NM_017721.5

p.Q506R

c.1517A>G

6 papers

NM_017721.5

p.E518*

c.1552G>T

5 papers

NM_017721.5

p.K116delFs

c.346delA

5 papers

NM_017721.5

p.A271delFs

c.811delG