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.Q1251_Q1254delFs

c.3753_3762del10

Surrounding Variants

1 paper

NM_181659.3

p.Q1251fs

c.3751_3752fs

1 paper

NM_181659.3

p.Q1251_Q1252delFs

c.3753_3754delGC

1 paper

NM_181659.3

p.Q1250Q

c.3750G>A

1 paper

NM_181659.3

p.Q1258ins4

c.3773_3774ins12

1 paper

NM_181659.3

p.Q1250R

c.3749A>G

1 paper

NM_181659.3

p.Q1250_Q1251delFs

c.3750_3751delGC

1 paper

NM_181659.3

p.Q1253_Q1258ins2

c.3759_3773dup15

4 papers

NM_181659.3

p.Q1254_Q1255del0

c.3760_3765del6

1 paper

NM_181659.3

p.Q1254_Q1260del0

c.3762_3779del18

1 paper

NM_181659.3

p.Q1253Q

c.3759G>A

5 papers

NM_181659.3

p.Q1254del1

c.3760_3761delCAA

1 paper

NM_181659.3

p.Q1253_Q1256delins

c.3759_3768delinsA