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

7 papers

NM_017721.5

p.G781V

c.2342G>T

Surrounding Variants

8 papers

NM_017721.5

p.G781E

c.2342G>A

1 paper

NM_017721.5

p.G781A

c.2342G>C

1 paper

NM_017721.5

p.T780T

c.2340A>G

1 paper

NM_017721.5

p.R783R

c.2347C>A

1 paper

NM_017721.5

p.R783*

c.2347C>T

1 paper

NM_017721.5

p.R783Q

c.2348G>A

1 paper

NM_017721.5

p.R783R

c.2349A>C

1 paper

NM_017721.5

p.R778L

c.2333G>T

1 paper

NM_017721.5

p.R778W

c.2332C>T

2 papers

NM_017721.5

p.R789W

c.2365C>T

2 papers

NM_017721.5

p.R789Q

c.2366G>A

2 papers

NM_017721.5

p.R791Q

c.2372G>A