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.A274A

c.822C>T

Surrounding Variants

1 paper

NM_017721.5

p.Q277H

c.831G>C

1 paper

NM_017721.5

p.Q277H

c.831G>T

1 paper

NM_017721.5

p.G278A

c.833G>C

5 papers

NM_017721.5

p.A271fs

c.811_812fs

5 papers

NM_017721.5

p.A271delFs

c.811delG

1 paper

NM_017721.5

p.D279N

c.835G>A

1 paper

NM_017721.5

p.D266N

c.796G>A

1 paper

NM_017721.5

p.R265H

c.794G>A

1 paper

NM_017721.5

p.A284T

c.850G>A

2 papers

NM_017721.5

p.R265L

c.794G>T

1 paper

NM_017721.5

p.R265C

c.793C>T

2 papers

NM_017721.5

p.R288C

c.862C>T