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.Q1385_Q1386Splc

c.4156-127G>C

Surrounding Variants

1 paper

NM_003743.5

p.Q1386E

c.4156C>G

1 paper

NM_003743.5

p.Q1388Q

c.4164A>G

1 paper

NM_003743.5

p.G1404S

c.4210G>A

2 papers

NM_003743.5

p.G1404R

c.4210G>C

2 papers

NM_003743.5

p.G1405R

c.4213G>A

2 papers

NM_003743.5

p.G1405R

c.4213G>C

1 paper

NM_003743.5

p.P1414P

c.4242A>T

1 paper

NM_003743.5

p.K1419K

c.4257G>A

1 paper

NM_003743.5

p.P1420L

c.4259C>T

1 paper

NM_003743.5

p.P1420delins

c.4259_4260delinsTT

1 paper

NM_003743.5

p.G1423V

c.4268G>T

1 paper

NM_003743.5

p.Q1428insFs

c.4282dupC