Varaico: Literature-Extracted Genetic Variants

Gene:NCOA2
Variant:p.R1290W

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.R1290W
c.3868C>T
Surrounding Variants
1 paper
NM_006540.4
p.R1290Q
c.3869G>A
1 paper
NM_006540.4
p.I1291M
c.3873T>G
1 paper
NM_006540.4
p.P1283S
c.3847C>T
4 papers
NM_006540.4
p.M1282I
c.3846G>T
4 papers
NM_006540.4
p.M1282I
c.3846G>C
4 papers
NM_006540.4
p.M1282I
c.3846G>A
2 papers
NM_006540.4
p.G1281D
c.3842G>A
2 papers
NM_006540.4
p.F1301V
c.3901T>G
1 paper
NM_006540.4
p.G1306R
c.3916G>A
1 paper
NM_006540.4
p.R1261Q
c.3782G>A
1 paper
NM_006540.4
p.M1252I
c.3756G>T
1 paper
NM_006540.4
p.M1252I
c.3756G>C
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