Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.A227insFs

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.A227insFs
c.680dupC
Surrounding Variants
1 paper
NM_207189.4
p.K226_A227delFs
c.678_681del4
1 paper
NM_207189.4
p.K238E
c.712A>G
1 paper
NM_207189.4
p.S239insFs
c.715dupT
3 papers
NM_207189.4
p.K238N
c.714A>C
3 papers
NM_207189.4
p.K238N
c.714A>T
1 paper
NM_207189.4
p.K214delFs
c.640delA
1 paper
NM_207189.4
p.V240_A241delFs
c.720_723del4
1 paper
NM_207189.4
p.V240V
c.720G>T
1 paper
NM_207189.4
p.A241V
c.722C>T
1 paper
NM_207189.4
p.L242_N252del0
c.726_755del30
1 paper
NM_207189.4
p.P243A
c.727C>G
1 paper
NM_207189.4
p.I245_L254del0
c.733_762del30
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