Varaico: Literature-Extracted Genetic Variants

Gene:BRDT
Variant:p.S47R

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.S47R
c.141T>G
Surrounding Variants
1 paper
NM_207189.4
p.S47R
c.141T>A
1 paper
NM_207189.4
p.F48_S49del1
c.143_145delTTT
1 paper
NM_207189.4
p.S47R
c.139A>C
1 paper
NM_207189.4
p.K45_H46delFs
c.135_136delGC
1 paper
NM_207189.4
p.D42V
c.125A>T
1 paper
NM_207189.4
p.Q53*
c.157C>T
1 paper
NM_207189.4
p.Q53L
c.158A>T
1 paper
NM_207189.4
p.D42H
c.124G>C
2 papers
NM_207189.4
p.P55S
c.163C>T
1 paper
NM_207189.4
p.V59insFs
c.175_176ins14
1 paper
NM_207189.4
p.L35insFs
c.103dupC
9 papers
NM_207189.4
p.Q62K
c.184C>A
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