Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_003743.5

p.S730R

c.2190T>G

Surrounding Variants

1 paper

NM_003743.5

p.S730R

c.2190T>A

1 paper

NM_003743.5

p.S730N

c.2189G>A

1 paper

NM_003743.5

p.S730R

c.2188A>C

1 paper

NM_003743.5

p.Q724*

c.2170C>T

3 papers

NM_003743.5

p.S738L

c.2213C>T

1 paper

NM_003743.5

p.K740T

c.2219A>C

1 paper

NM_003743.5

p.S718Y

c.2153C>A

2 papers

NM_003743.5

p.A715T

c.2143G>A

1 paper

NM_003743.5

p.D710H

c.2128G>C

1 paper

NM_003743.5

p.E708K

c.2122G>A

1 paper

NM_003743.5

p.T704T

c.2112T>G

1 paper

NM_003743.5

p.R692Q

c.2075G>A