Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.C105*

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.C105*
c.315T>A
Surrounding Variants
1 paper
NM_207189.4
p.S103*
c.308C>A
1 paper
NM_207189.4
p.M101insFs
c.302dupT
1 paper
NM_207189.4
p.N99I
c.296A>T
1 paper
NM_207189.4
p.D97delFs
c.289_290delGA
1 paper
NM_207189.4
p.S92L
c.275C>T
1 paper
NM_207189.4
p.A91V
c.272C>T
2 papers
NM_207189.4
p.A89V
c.266C>T
1 paper
NM_207189.4
p.N77D
c.229A>G
1 paper
NM_207189.4
p.D75_K80insFs
c.224_240dup17
1 paper
NM_207189.4
p.N72fs
c.214_215fs
1 paper
NM_207189.4
p.I70insFs
c.210dupA
9 papers
NM_207189.4
p.Q62K
c.184C>A
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