Varaico: Literature-Extracted Genetic Variants

Gene:BRD8
Variant:p.S224C

BRD8

302 papers

RefSeq Summary

The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein con...

Pfam Domains

Bromodomainaa 716–799UCSCBromodomain
Bromodomainaa 1112–1195UCSCBromodomain

Gene Aliases

HGNC Name

bromodomain containing 8

HGNC Alias Symbol

p120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139199.2
p.S224C
c.671C>G
Surrounding Variants
4 papers
NM_139199.2
p.S224F
c.671C>T
1 paper
NM_139199.2
p.G225C
c.673G>T
1 paper
NM_139199.2
p.L227L
c.681G>A
1 paper
NM_139199.2
p.G237S
c.709G>A
1 paper
NM_139199.2
p.G238R
c.712G>C
1 paper
NM_139199.2
p.G238R
c.712G>A
1 paper
NM_139199.2
p.G237_G238delins
c.711_714delinsATCCCCAGTA
1 paper
NM_139199.2
p.G245S
c.733G>A
2 papers
NM_139199.2
p.E247K
c.739G>A
1 paper
NM_139199.2
p.Q249insFs
c.745dupC
1 paper
NM_139199.2
p.T251I
c.752C>T
1 paper
NM_139199.2
p.S213C
c.638C>G
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