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.A189V

c.566C>T

Surrounding Variants

1 paper

NM_017721.5

p.E188Q

c.562G>C

6 papers

NM_017721.5

p.P192L

c.575C>T

2 papers

NM_017721.5

p.R181H

c.542G>A

1 paper

NM_017721.5

p.R181C

c.541C>T

1 paper

NM_017721.5

p.A178D

c.533C>A

1 paper

NM_017721.5

p.L177L

c.531C>T

2 papers

NM_017721.5

p.P201L

c.602C>T

2 papers

NM_017721.5

p.A202V

c.605C>T

1 paper

NM_017721.5

p.T204M

c.611C>T

1 paper

NM_017721.5

p.T172P

c.514A>C

3 papers

NM_017721.5

p.T172fs

c.514_515fs

1 paper

NM_017721.5

p.Y207_S208Fs

c.621_624delinsGAAFs