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

4 papers

NM_181659.3

p.Q1264del1

c.3790_3791delCAA

Surrounding Variants

1 paper

NM_001174087.2

p.Q1263fs

c.3787_3788fs

2 papers

NM_001174087.2

p.Q1263insFs

c.3788_3789insGC

NM_001174088.2

p.Q1255insFs

c.3764_3765insGC

NM_181659.3

p.Q1264insFs

c.3791_3792insGC

1 paper

NM_001174088.2

p.Q1255_Q1256insFs

c.3765_3766insG

NM_001174087.2

p.Q1263_Q1264insFs

c.3789_3790insG

1 paper

NM_181659.3

p.Q1265del1

c.3793_3794delCAG

1 paper

NM_181659.3

p.Q1262Q

c.3786G>A

2 papers

NM_181659.3

p.Q1263ins1

c.3788_3789insACA

1 paper

NM_181659.3

p.Q1270_Q1272ins1

c.3810_3815dup6

1 paper

NM_181659.3

p.Q1263_Q1264del2

c.3787_3791del6

1 paper

NM_181659.3

p.Q1265*

c.3793C>T

1 paper

NM_181659.3

p.Q1261Q

c.3783G>A

1 paper

NM_181659.3

p.Q1261K

c.3781C>A

1 paper

NM_181659.3

p.Q1267del1

c.3799_3800delCAG