Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.I800M

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.I800M
c.2400T>G
Surrounding Variants
1 paper
NM_207189.4
p.A803V
c.2408C>T
1 paper
NM_207189.4
p.S805_P812del8
c.2413_2435del24
2 papers
NM_207189.4
p.V818V
c.2454A>T
1 paper
NM_001242806.2
p.E828K
c.2482G>A
1 paper
NM_207189.4
p.N827T
c.2480A>C
1 paper
NM_207189.4
p.F829_K831delFs
c.2487_2491del5
1 paper
NM_207189.4
p.K836N
c.2508G>C
1 paper
NM_207189.4
p.K836N
c.2508G>T
1 paper
NM_207189.4
p.L845F
c.2533C>T
1 paper
NM_207189.4
p.R847W
c.2539C>T
1 paper
NM_207189.4
p.T854delFs
c.2561_2562delCA
1 paper
NM_207189.4
p.T854_K855delFs
c.2562_2563delAA
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