Varaico: Literature-Extracted Genetic Variants

Gene:NCOA2
Variant:p.T483I

NCOA2

302 papers

RefSeq Summary

The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an...

Pfam Domains

bHLH_NCOAaa 1–80UCSCNuclear receptor coactivators bHLH domain
bHLH_NCOAaa 1–80UCSCNuclear receptor coactivators bHLH domain
PASaa 115–214UCSCPAS fold
PASaa 115–214UCSCPAS fold
PAS_11aa 267–379UCSCPAS domain
PAS_11aa 267–379UCSCPAS domain

Gene Aliases

HGNC Name

nuclear receptor coactivator 2

HGNC Alias Symbols

TIF2; NCoA-2; KAT13C; bHLHe75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006540.4
p.T483I
c.1448C>T
Surrounding Variants
1 paper
NM_006540.4
p.G480V
c.1439G>T
1 paper
NM_006540.4
p.P488T
c.1462C>A
1 paper
NM_006540.4
p.G476D
c.1427G>A
1 paper
NM_006540.4
p.R491H
c.1472G>A
1 paper
NM_006540.4
p.S493I
c.1478G>T
1 paper
NM_006540.4
p.S471*
c.1412C>G
1 paper
NM_006540.4
p.S471*
c.1412C>A
1 paper
NM_006540.4
p.P470S
c.1408C>T
1 paper
NM_006540.4
p.P470T
c.1408C>A
1 paper
NM_006540.4
p.P500S
c.1498C>T
1 paper
NM_006540.4
p.P504L
c.1511C>T
1 paper
NM_006540.4
p.N462S
c.1385A>G
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