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.R911Q

c.2732G>A

Surrounding Variants

1 paper

NM_017721.5

p.R911G

c.2731C>G

7 papers

NM_017721.5

p.E910K

c.2728G>A

3 papers

NM_017721.5

p.A906T

c.2716G>A

1 paper

NM_017721.5

p.A919T

c.2755G>A

1 paper

NM_017721.5

p.A919P

c.2755G>C

1 paper

NM_017721.5

p.A920V

c.2759C>T

1 paper

NM_017721.5

p.R921Q

c.2762G>A

1 paper

NM_017721.5

p.R922C

c.2764C>T

1 paper

NM_017721.5

p.R922H

c.2765G>A

2 papers

NM_017721.5

p.N925S

c.2774A>G

1 paper

NM_017721.5

p.N925N

c.2775C>T

1 paper

NM_017721.5

p.D926N

c.2776G>A