Varaico: Literature-Extracted Genetic Variants

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 276–364UCSCBromodomain

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_001242807.2

p.D467fs

c.1399_1400fs

Surrounding Variants

1 paper

NM_001242807.2

p.D467delFs

c.1400delA

1 paper

NM_207189.4

p.Q517*

c.1549C>T

1 paper

NM_207189.4

p.D505N

c.1513G>A

2 papers

NM_207189.4

p.R532*

c.1594C>T

1 paper

NM_207189.4

p.R532Q

c.1595G>A

1 paper

NM_207189.4

p.Q488*

c.1462C>T

1 paper

NM_207189.4

p.N487Splc

c.1460+26T>A

1 paper

NM_207189.4

p.R486*

c.1456A>T

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.L567ins1

c.1699_1700insAGC

1 paper

NM_207189.4

p.E462*

c.1384G>T