Varaico: Literature-Extracted Genetic Variants

Gene:NCOA2
Variant:p.S29R

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.S29R
c.87C>A
Surrounding Variants
1 paper
NM_006540.4
p.S29R
c.87C>G
1 paper
NM_006540.4
p.S29R
c.85A>C
1 paper
NM_006540.4
p.T34I
c.101C>T
1 paper
NM_006540.4
p.E35E
c.105A>G
1 paper
NM_006540.4
p.N38delFs
c.112delT
1 paper
NM_006540.4
p.E40V
c.119A>T
1 paper
NM_006540.4
p.E42D
c.126A>T
1 paper
NM_006540.4
p.I46T
c.137T>C
1 paper
NM_006540.4
p.E47K
c.139G>A
1 paper
NM_006540.4
p.I46delFs
c.136_137delAT
1 paper
NM_006540.4
p.A50T
c.148G>A
1 paper
NM_006540.4
p.A50G
c.149C>G
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