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.L104_A105Splc

c.313-9T>C

Surrounding Variants

1 paper

NM_017721.5

p.L104_A105Splc

c.313-4G>A

1 paper

NM_017721.5

p.L104_A105Splc

c.313-3C>T

1 paper

NM_017721.5

p.A105V

c.314C>T

2 papers

NM_017721.5

p.A105A

c.315G>A

1 paper

NM_017721.5

p.E109K

c.325G>A

1 paper

NM_017721.5

p.L111P

c.332T>C

5 papers

NM_017721.5

p.K116delFs

c.346delA

4 papers

NM_017721.5

p.K116fs

c.346_347fs

1 paper

NM_017721.5

p.A125T

c.373G>A

1 paper

NM_017721.5

p.L104_A105Splc

c.312+6C>T

1 paper

NM_017721.5

p.D101H

c.301G>C

1 paper

NM_017721.5

p.D96A

c.287A>C