Varaico: Literature-Extracted Genetic Variants

NCOA3

384 papers

RefSeq Summary

The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone a...

Pfam Domains

bHLH_NCOAaa 1–79UCSCNuclear receptor coactivators bHLH domain

PASaa 113–211UCSCPAS fold

PAS_11aa 264–375UCSCPAS domain

NCOA_u2aa 459–572UCSCUnstructured region on nuclear receptor coactivator protein

SRC-1aa 616–704UCSCSteroid receptor coactivator

DUF4927aa 723–810UCSCDomain of unknown function (DUF4927)

Gene Aliases

HGNC Name

nuclear receptor coactivator 3

HGNC Alias Symbols

AIB1; p/CIP; TRAM-1; CAGH16; TNRC16; KAT13B; bHLHe42; SRC-3; SRC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181659.3

p.M224I

c.672G>A

Surrounding Variants

1 paper

NM_181659.3

p.Q225fs

c.673_674fs

1 paper

NM_181659.3

p.M224delFs

c.671delT

1 paper

NM_181659.3

p.Y221insFs

c.661dupT

1 paper

NM_181659.3

p.R220I

c.659G>T

1 paper

NM_181659.3

p.S230A

c.688T>G

1 paper

NM_181659.3

p.Q231*

c.691C>T

7 papers

NM_181659.3

p.R218C

c.652C>T

1 paper

NM_181659.3

p.P232_G239del0

c.695_715del21

1 paper

NM_181659.3

p.E216_M217insC

c.646_650ins3

1 paper

NM_181659.3

p.R233R

c.699A>T

1 paper

NM_181659.3

p.P215R

c.644C>G

3 papers

NM_181659.3

p.A234T

c.700G>A