Varaico: Literature-Extracted Genetic Variants

BAZ1B

145 papers

RefSeq Summary

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is...

Pfam Domains

WAC_Acf1_DNA_bdaa 21–120UCSCATP-utilising chromatin assembly and remodelling N-terminal

WHIM1aa 723–771UCSCWSTF, HB1, Itc1p, MBD9 motif 1

WSDaa 898–1025UCSCWilliams-Beuren syndrome DDT (WSD), D-TOX E motif

PHDaa 1187–1231UCSCPHD-finger

Bromodomainaa 1348–1431UCSCBromodomain

Gene Aliases

HGNC Name

bromodomain adjacent to zinc finger domain 1B

HGNC Previous Symbols

WBSCR9; WBSCR10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032408.4

p.M838I

c.2514G>C

Surrounding Variants

1 paper

NM_032408.4

p.M838I

c.2514G>T

1 paper

NM_032408.4

p.M838I

c.2514G>A

1 paper

NM_032408.4

p.D832H

c.2494G>C

1 paper

NM_032408.4

p.P829L

c.2486C>T

1 paper

NM_032408.4

p.A849A

c.2547C>T

1 paper

NM_032408.4

p.V825A

c.2474T>C

1 paper

NM_032408.4

p.E823fs

c.2467_2468fs

1 paper

NM_032408.4

p.K822fs

c.2464_2465fs

1 paper

NM_032408.4

p.E862K

c.2584G>A

1 paper

NM_032408.4

p.E800*

c.2398G>T

1 paper

NM_032408.4

p.E800K

c.2398G>A

1 paper

NM_032408.4

p.K785K

c.2355G>A