Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.E649_S653delFs

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.E649_S653delFs
c.1946_1958del13
Surrounding Variants
1 paper
NM_207189.4
p.S650_S652del0
c.1948_1956del9
1 paper
NM_207189.4
p.S648del1
c.1942_1943delTCA
5 papers
NM_207189.4
p.S650F
c.1949C>T
1 paper
NM_207189.4
p.S640ins1
c.1918_1919insAGC
1 paper
NM_207189.4
p.S646ins0
c.1936_1938dupAGC
2 papers
NM_207189.4
p.S640del1
c.1918_1920delAGC
1 paper
NM_207189.4
p.R636*
c.1906C>T
1 paper
NM_207189.4
p.S622Splc
c.1864+66A>G
1 paper
NM_207189.4
p.K621insFs
c.1862dupA
1 paper
NM_207189.4
p.S615F
c.1844C>T
1 paper
NM_207189.4
p.N614H
c.1840A>C
1 paper
NM_207189.4
p.Q612*
c.1834C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."