Varaico: Literature-Extracted Genetic Variants

Gene:NCOA3
Variant:p.P729_R744del16

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.P729_R744del16
c.2185_2231del48
Surrounding Variants
1 paper
NM_181659.3
p.Q726H
c.2178G>C
1 paper
NM_181659.3
p.Q726H
c.2178G>T
1 paper
NM_181659.3
p.K732K
c.2196G>A
1 paper
NM_181659.3
p.K723R
c.2168A>G
1 paper
NM_181659.3
p.N734S
c.2201A>G
1 paper
NM_181659.3
p.L737P
c.2210T>C
1 paper
NM_181659.3
p.L737R
c.2210T>G
1 paper
NM_181659.3
p.G719A
c.2156G>C
1 paper
NM_181659.3
p.R739_L741delFs
c.2216_2222del7
1 paper
NM_181659.3
p.S715F
c.2144C>T
1 paper
NM_181659.3
p.S712N
c.2135G>A
1 paper
NM_181659.3
p.S712I
c.2135G>T
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