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

1–12 of 176 variants

3 papers

NM_032408.4

p.S916*

c.2747C>G

3 papers

NM_032408.4

p.S916*

c.2747C>A

3 papers

NM_032408.4

p.A1299G

c.3896C>G

2 papers

NM_032408.4

p.S158A

c.472T>G

2 papers

NM_032408.4

p.D399G

c.1196A>G

2 papers

NM_032408.4

p.S679S

c.2037G>A

2 papers

NM_032408.4

p.R697C

c.2089C>T

2 papers

NM_032408.4

p.R755W

c.2263C>T

2 papers

NM_032408.4

p.G1224D

c.3671G>A

2 papers

NM_032408.4

p.R1399C

c.4195C>T

1 paper

NM_032408.4

p.P3insFs

c.7dupC

1 paper

NM_032408.4

p.K14R

c.41A>G