Varaico: Literature-Extracted Genetic Variants

Gene:BRD3
Variant:p.D503E

BRD3

194 papers

RefSeq Summary

This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility c...

Pfam Domains

Bromodomainaa 42–128UCSCBromodomain
Bromodomainaa 315–403UCSCBromodomain
BETaa 571–635UCSCBromodomain extra-terminal - transcription regulation

Gene Aliases

HGNC Name

bromodomain containing 3

HGNC Alias Symbols

RING3L; ORFX; KIAA0043; FSHRG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_007371.4
p.D503E
c.1509C>G
Surrounding Variants
3 papers
NM_007371.4
p.D503E
c.1509C>A
1 paper
NM_007371.4
p.K502del1
c.1504_1505delCTT
1 paper
NM_007371.4
p.E505K
c.1513G>A
1 paper
NM_007371.4
p.K508del1
c.1522_1524delCTT
1 paper
NM_007371.4
p.E498K
c.1492G>A
1 paper
NM_007371.4
p.E509del1
c.1525_1526delCTC
1 paper
NM_007371.4
p.E509_K510del2
c.1525_1529del6
1 paper
NM_007371.4
p.H511L
c.1532A>T
1 paper
NM_007371.4
p.K495E
c.1483A>G
1 paper
NM_007371.4
p.E493del1
c.1477_1479delCTC
1 paper
NM_007371.4
p.E493A
c.1478A>C
1 paper
NM_007371.4
p.E493K
c.1477G>A
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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."