Varaico: Literature-Extracted Genetic Variants

Gene:BRD8
Variant:p.L315L

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.L315L
c.943C>T
Surrounding Variants
1 paper
NM_139199.2
p.P322R
c.965C>G
1 paper
NM_139199.2
p.S305C
c.914C>G
1 paper
NM_139199.2
p.P300P
c.900T>A
1 paper
NM_139199.2
p.G274C
c.820G>T
3 papers
NM_139199.2
p.S268A
c.802T>G
1 paper
NM_139199.2
p.L267F
c.799C>T
2 papers
NM_139199.2
p.Q335*
c.1003C>T
1 paper
NM_139199.2
p.Q335Q
c.1005A>G
1 paper
NM_139199.2
p.D356A
c.1067A>C
2 papers
NM_139199.2
p.M362L
c.1084A>T
1 paper
NM_139199.2
p.I364F
c.1090A>T
1 paper
NM_139199.2
p.K368E
c.1102A>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."