Varaico: Literature-Extracted Genetic Variants

Gene:NCOA1
Variant:p.L1267L

NCOA1

381 papers

RefSeq Summary

The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other fa...

Pfam Domains

bHLH_NCOAaa 1–77UCSCNuclear receptor coactivators bHLH domain
PASaa 112–189UCSCPAS fold
PAS_11aa 259–370UCSCPAS domain
NCOA_u2aa 467–590UCSCUnstructured region on nuclear receptor coactivator protein
SRC-1aa 628–708UCSCSteroid receptor coactivator
Nuc_rec_co-actaa 924–973UCSCNuclear receptor coactivator

Gene Aliases

HGNC Name

nuclear receptor coactivator 1

HGNC Alias Symbols

SRC1; F-SRC-1; NCoA-1; KAT13A; RIP160; bHLHe74

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003743.5
p.L1267L
c.3801T>G
Surrounding Variants
13 papers
NM_003743.5
p.P1272S
c.3814C>T
1 paper
NM_003743.5
p.P1273_S1275delFs
c.3819_3823del5
1 paper
NM_003743.5
p.P1261H
c.3782C>A
1 paper
NM_003743.5
p.P1261S
c.3781C>T
1 paper
NM_003743.5
p.P1259L
c.3776C>T
1 paper
NM_003743.5
p.Y1277C
c.3830A>G
1 paper
NM_003743.5
p.Y1277Y
c.3831T>C
1 paper
NM_003743.5
p.P1257L
c.3770C>T
1 paper
NM_003743.5
p.P1280S
c.3838C>T
1 paper
NM_003743.5
p.S1250I
c.3749G>T
1 paper
NM_003743.5
p.Q1286*
c.3856C>T
1 paper
NM_003743.5
p.A1289V
c.3866C>T
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