Varaico: Literature-Extracted Genetic Variants

Gene:NCOA3
Variant:p.F1238_Q1241del0

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
5 papers
NM_181659.3
p.F1238_Q1241del0
c.3714_3722del9
Surrounding Variants
1 paper
NM_181659.3
p.R1239*
c.3715C>T
1 paper
NM_181659.3
p.V1243_M1246del4
c.3727_3737del12
1 paper
NM_181659.3
p.V1243_A1244del2
c.3727_3731del6
1 paper
NM_181659.3
p.E1232V
c.3695A>T
1 paper
NM_181659.3
p.E1232*
c.3694G>T
6 papers
NM_181659.3
p.M1246del1
c.3736_3738delATG
2 papers
NM_181659.3
p.M1246_M1247del0
c.3736_3741del6
6 papers
NM_181659.3
p.M1246_Q1249del4
c.3736_3746del12
6 papers
NM_181659.3
p.M1247_Q1249del3
c.3739_3746del9
1 paper
NM_181659.3
p.M1246_Q1249delFs
c.3738_3747del10
1 paper
NM_181659.3
p.M1247_Q1250del4
c.3739_3749del12
1 paper
NM_181659.3
p.R1229H
c.3686G>A
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