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.N553S

c.1658A>G

Surrounding Variants

1 paper

NM_181659.3

p.N550I

c.1649A>T

2 papers

NM_181659.3

p.L548W

c.1643T>G

2 papers

NM_181659.3

p.P559S

c.1675C>T

1 paper

NM_181659.3

p.P544P

c.1632A>T

1 paper

NM_181659.3

p.P544S

c.1630C>T

NM_001174088.2

p.P554S

c.1660C>T

1 paper

NM_181659.3

p.S542L

c.1625C>T

1 paper

NM_181659.3

p.D566_N578del13

c.1696_1733del39

1 paper

NM_181659.3

p.D566N

c.1696G>A

1 paper

NM_181659.3

p.K568_S569insA

c.1702_1706ins3

1 paper

NM_181659.3

p.S569G

c.1705A>G

1 paper

NM_181659.3

p.L537H

c.1610T>A

1 paper

NM_181659.3

p.P570delFs

c.1710delT