Varaico: Literature-Extracted Genetic Variants

Gene:BRD4
Variant:p.E1246*

BRD4

636 papers

RefSeq Summary

The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these pr...

Pfam Domains

Bromodomainaa 67–152UCSCBromodomain
Bromodomainaa 357–445UCSCBromodomain
BETaa 609–673UCSCBromodomain extra-terminal - transcription regulation
BRD4_CDTaa 1319–1362UCSCC-terminal domain of bromodomain protein 4

Gene Aliases

HGNC Name

bromodomain containing 4

HGNC Alias Symbols

HUNKI; MCAP; HUNK1; FSHRG4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379291.1
p.E1246*
c.3736G>T
Surrounding Variants
1 paper
NM_001379291.1
p.E1246K
c.3736G>A
1 paper
NM_001379291.1
p.Q1244E
c.3730C>G
1 paper
NM_001379291.1
p.A1248V
c.3743C>T
1 paper
NM_001379291.1
p.A1243D
c.3728C>A
2 papers
NM_001379291.1
p.E1251K
c.3751G>A
1 paper
NM_001379291.1
p.R1237H
c.3710G>A
1 paper
NM_001379291.1
p.R1256W
c.3766C>T
1 paper
NM_001379291.1
p.R1256Q
c.3767G>A
1 paper
NM_001379291.1
p.E1235Q
c.3703G>C
1 paper
NM_001379291.1
p.R1232L
c.3695G>T
1 paper
NM_001379291.1
p.A1231V
c.3692C>T
2 papers
NM_001379291.1
p.R1261Splc
c.3782+2T>G
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