Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.R486*

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.R486*
c.1456A>T
Surrounding Variants
1 paper
NM_207189.4
p.K485N
c.1455G>C
1 paper
NM_207189.4
p.K485N
c.1455G>T
1 paper
NM_207189.4
p.N487Splc
c.1460+26T>A
1 paper
NM_207189.4
p.E462*
c.1384G>T
1 paper
NM_207189.4
p.Q488*
c.1462C>T
1 paper
NM_207189.4
p.K459N
c.1377G>C
1 paper
NM_207189.4
p.K459N
c.1377G>T
1 paper
NM_207189.4
p.S455T
c.1363T>A
1 paper
NM_207189.4
p.E453A
c.1358A>C
1 paper
NM_207189.4
p.N449K
c.1347T>A
1 paper
NM_207189.4
p.K451delFs
c.1351delA
1 paper
NM_207189.4
p.D505N
c.1513G>A
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