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

2 papers

NM_032408.4

p.R755W

c.2263C>T

Surrounding Variants

1 paper

NM_032408.4

p.H754R

c.2261A>G

1 paper

NM_032408.4

p.H754delFs

c.2260delG

1 paper

NM_032408.4

p.H754N

c.2260C>A

1 paper

NM_032408.4

p.Q763H

c.2289A>T

1 paper

NM_032408.4

p.Q763H

c.2289A>C

1 paper

NM_032408.4

p.T741M

c.2222C>T

1 paper

NM_032408.4

p.E727G

c.2180A>G

1 paper

NM_032408.4

p.K785K

c.2355G>A

1 paper

NM_032408.4

p.N713del1

c.2137_2138delATT

1 paper

NM_032408.4

p.K714E

c.2140A>G

1 paper

NM_032408.4

p.N713delFs

c.2137_2138delTT

1 paper

NM_032408.4

p.D712N

c.2134G>A