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.S423_T424insFs

c.1269_1270insT

Surrounding Variants

1 paper

NM_181659.3

p.T425I

c.1274C>T

1 paper

NM_181659.3

p.T425_G426delFs

c.1275_1276delAG

1 paper

NM_181659.3

p.D421_P422delFs

c.1263_1264delCC

1 paper

NM_181659.3

p.G426R

c.1276G>A

1 paper

NM_181659.3

p.G426E

c.1277G>A

1 paper

NM_181659.3

p.A420A

c.1260A>G

2 papers

NM_181659.3

p.G418delFs

c.1254delC

2 papers

NM_181659.3

p.G418_L419delFs

c.1254_1255delCT

1 paper

NM_181659.3

p.S429N

c.1286G>A

1 paper

NM_181659.3

p.Y417delFs

c.1249_1250delTA

1 paper

NM_181659.3

p.A431V

c.1292C>T

1 paper

NM_181659.3

p.A416_Y417del1

c.1247_1249delCCT