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.L130R

c.389T>G

Surrounding Variants

1 paper

NM_032408.4

p.L130I

c.388C>A

1 paper

NM_032408.4

p.K136N

c.408G>T

1 paper

NM_032408.4

p.K136N

c.408G>C

1 paper

NM_032408.4

p.A155V

c.464C>T

2 papers

NM_032408.4

p.S158A

c.472T>G

1 paper

NM_032408.4

p.P159S

c.475C>T

1 paper

NM_032408.4

p.S166A

c.496T>G

1 paper

NM_032408.4

p.K163_A170delFs

c.489_510del22

1 paper

NM_032408.4

p.K176R

c.527A>G

1 paper

NM_032408.4

p.K176del1

c.526_527delCTT

1 paper

NM_032408.4

p.N191Splc

c.571+1G>T

1 paper

NM_032408.4

p.S197*

c.590C>A