Varaico: Literature-Extracted Genetic Variants

Gene:NCOA2
Variant:p.V129L

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.V129L
c.385G>C
Surrounding Variants
1 paper
NM_006540.4
p.V129L
c.385G>T
1 paper
NM_006540.4
p.F126L
c.378C>G
1 paper
NM_006540.4
p.F126L
c.378C>A
1 paper
NM_006540.4
p.F126L
c.376T>C
1 paper
NM_006540.4
p.V136_V137del2
c.406_410del6
1 paper
NM_006540.4
p.V139L
c.415G>T
1 paper
NM_006540.4
p.V139L
c.415G>C
1 paper
NM_006540.4
p.Q145L
c.434A>T
1 paper
NM_006540.4
p.M155I
c.465G>T
1 paper
NM_006540.4
p.M155I
c.465G>C
1 paper
NM_006540.4
p.M155I
c.465G>A
1 paper
NM_006540.4
p.V159V
c.477A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."