Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.V269fs

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.V269fs
c.805_806fs
Surrounding Variants
1 paper
NM_207189.4
p.K268T
c.803A>C
1 paper
NM_207189.4
p.V269_E271delFs
c.805_812del8
1 paper
NM_207189.4
p.Q272L
c.815A>T
1 paper
NM_207189.4
p.N252I
c.755A>T
1 paper
NM_207189.4
p.H288Y
c.862C>T
1 paper
NM_207189.4
p.F289_S290del2
c.865_869del6
1 paper
NM_207189.4
p.E247*
c.739G>T
1 paper
NM_207189.4
p.A292V
c.875C>T
1 paper
NM_207189.4
p.W293*
c.878G>A
1 paper
NM_207189.4
p.I245_L254del0
c.733_762del30
1 paper
NM_207189.4
p.P243A
c.727C>G
1 paper
NM_207189.4
p.L242_N252del0
c.726_755del30
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