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.L478L

c.1434C>A

Surrounding Variants

1 paper

NM_032408.4

p.H477R

c.1430A>G

1 paper

NM_032408.4

p.K466K

c.1398A>G

1 paper

NM_032408.4

p.T463A

c.1387A>G

1 paper

NM_032408.4

p.R455Q

c.1364G>A

1 paper

NM_032408.4

p.A503V

c.1508C>T

1 paper

NM_032408.4

p.Q448fs

c.1342_1343fs

1 paper

NM_032408.4

p.A512V

c.1535C>T

1 paper

NM_032408.4

p.A512D

c.1535C>A

1 paper

NM_032408.4

p.P515S

c.1543C>T

1 paper

NM_032408.4

p.R519Q

c.1556G>A

1 paper

NM_032408.4

p.Q437*

c.1309C>T

1 paper

NM_032408.4

p.R525H

c.1574G>A