Varaico: Literature-Extracted Genetic Variants

Gene:BRD8
Variant:p.S213C

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.S213C
c.638C>G
Surrounding Variants
1 paper
NM_139199.2
p.T212T
c.636C>T
1 paper
NM_139199.2
p.P194A
c.580C>G
1 paper
NM_139199.2
p.P181A
c.541C>G
2 papers
NM_139199.2
p.R178fs
c.532_533fs
1 paper
NM_139199.2
p.R178W
c.532C>T
1 paper
NM_139199.2
p.T175I
c.524C>T
1 paper
NM_139199.2
p.Q171insFs
c.512dupA
1 paper
NM_139199.2
p.T163I
c.488C>T
1 paper
NM_139199.2
p.E153V
c.458A>T
1 paper
NM_139199.2
p.E152*
c.454G>T
4 papers
NM_139199.2
p.S224F
c.671C>T
1 paper
NM_139199.2
p.S224C
c.671C>G
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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."