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

2 papers

NM_017721.5

p.K547_V548Splc

c.1641+1G>A

Surrounding Variants

1 paper

NM_017721.5

p.I545T

c.1634T>C

1 paper

NM_017721.5

p.K547_V548Splc

c.1641+10C>T

3 papers

NM_017721.5

p.V543M

c.1627G>A

1 paper

NM_017721.5

p.P542fs

c.1624_1625fs

4 papers

NM_017721.5

p.P542fs

c.1624_1625fs

4 papers

NM_017721.5

p.G540_L541insFs

c.1620_1623dup4

1 paper

NM_017721.5

p.N539D

c.1615A>G

2 papers

NM_017721.5

p.R538C

c.1612C>T

2 papers

NM_017721.5

p.S537S

c.1611G>A

4 papers

NM_017721.5

p.S537L

c.1610C>T

1 paper

NM_017721.5

p.M533V

c.1597A>G

5 papers

NM_017721.5

p.P532L

c.1595C>T