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.E680*

c.2038G>T

Surrounding Variants

2 papers

NM_181659.3

p.L678V

c.2032T>G

1 paper

NM_181659.3

p.L677Q

c.2030T>A

1 paper

NM_181659.3

p.N672_M673insG

c.2014_2018ins3

1 paper

NM_181659.3

p.S671insFs

c.2012_2013insT

1 paper

NM_181659.3

p.L689P

c.2066T>C

1 paper

NM_181659.3

p.S668C

c.2003C>G

1 paper

NM_181659.3

p.N693insFs

c.2078_2079insA

1 paper

NM_181659.3

p.E697*

c.2089G>T

1 paper

NM_181659.3

p.E697G

c.2090A>G

1 paper

NM_181659.3

p.A699T

c.2095G>A

1 paper

NM_181659.3

p.K700E

c.2098A>G

1 paper

NM_181659.3

p.K700*

c.2098A>T