Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.L934H

BRDT

118 papers

RefSeq Summary

BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins tha...

Pfam Domains

Bromodomainaa 36–121UCSCBromodomain
Bromodomainaa 36–121UCSCBromodomain
Bromodomainaa 276–364UCSCBromodomain
Bromodomainaa 276–364UCSCBromodomain
BETaa 509–573UCSCBromodomain extra-terminal - transcription regulation
BETaa 509–573UCSCBromodomain extra-terminal - transcription regulation

Gene Aliases

HGNC Name

bromodomain testis associated

HGNC Alias Symbols

BRD6; CT9; BRDt

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207189.4
p.L934H
c.2801T>A
Surrounding Variants
1 paper
NM_207189.4
p.T940K
c.2819C>A
7 papers
NM_207189.4
p.G928D
c.2783G>A
1 paper
NM_207189.4
p.N945_*948del4
c.2833_2843del12
1 paper
NM_207189.4
p.N945I
c.2834A>T
1 paper
NM_207189.4
p.E924G
c.2771A>G
1 paper
NM_207189.4
p.R914M
c.2741G>T
1 paper
NM_207189.4
p.R910L
c.2729G>T
1 paper
NM_207189.4
p.L906_K908delFs
c.2717_2724del8
1 paper
NM_207189.4
p.K879N
c.2637A>C
1 paper
NM_207189.4
p.K879N
c.2637A>T
1 paper
NM_207189.4
p.E874*
c.2620G>T
1 paper
NM_207189.4
p.R865Splc
c.2594+18T>G
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