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.A814V

c.2441C>T

Surrounding Variants

1 paper

NM_017721.5

p.A814S

c.2440G>T

1 paper

NM_017721.5

p.P813L

c.2438C>T

1 paper

NM_017721.5

p.T818P

c.2452A>C

1 paper

NM_017721.5

p.D810E

c.2430C>A

1 paper

NM_017721.5

p.D810E

c.2430C>G

1 paper

NM_017721.5

p.T818I

c.2453C>T

1 paper

NM_017721.5

p.T818_Q819Splc

c.2454+8C>T

1 paper

NM_017721.5

p.R805M

c.2414G>T

1 paper

NM_017721.5

p.E804K

c.2410G>A

1 paper

NM_017721.5

p.E804Q

c.2410G>C

2 papers

NM_017721.5

p.T802M

c.2405C>T

9 papers

NM_017721.5

p.T801M

c.2402C>T