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.D95E

c.285C>G

Surrounding Variants

1 paper

NM_017721.5

p.D95E

c.285C>A

1 paper

NM_017721.5

p.D96A

c.287A>C

1 paper

NM_017721.5

p.E94G

c.281A>G

1 paper

NM_017721.5

p.T92M

c.275C>T

2 papers

NM_017721.5

p.E90D

c.270G>C

2 papers

NM_017721.5

p.E90D

c.270G>T

1 paper

NM_017721.5

p.D101H

c.301G>C

1 paper

NM_017721.5

p.L104_A105Splc

c.312+6C>T

1 paper

NM_017721.5

p.P84P

c.252G>A

1 paper

NM_017721.5

p.P84S

c.250C>T

1 paper

NM_017721.5

p.C80S

c.239G>C

1 paper

NM_017721.5

p.C80S

c.238T>A