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.K451R

c.1352A>G

Surrounding Variants

7 papers

NM_017721.5

p.V449M

c.1345G>A

1 paper

NM_017721.5

p.E445K

c.1333G>A

1 paper

NM_017721.5

p.P442P

c.1326A>C

2 papers

NM_017721.5

p.G441V

c.1322G>T

1 paper

NM_017721.5

p.T431T

c.1293T>C

1 paper

NM_017721.5

p.E430K

c.1288G>A

3 papers

NM_017721.5

p.G427G

c.1281T>C

1 paper

NM_017721.5

p.V426M

c.1276G>A

1 paper

NM_017721.5

p.Q423Q

c.1269G>A

1 paper

NM_017721.5

p.Q422Q

c.1266G>A

1 paper

NM_017721.5

p.Q422*

c.1264C>T

1 paper

NM_017721.5

p.I412M

c.1236C>G