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.P1296L

c.3887C>T

Surrounding Variants

3 papers

NM_032408.4

p.A1299G

c.3896C>G

1 paper

NM_032408.4

p.R1285*

c.3853C>T

1 paper

NM_032408.4

p.A1319V

c.3956C>T

1 paper

NM_032408.4

p.L1330_V1331Splc

c.3990+1G>A

1 paper

NM_032408.4

p.R1336Q

c.4007G>A

1 paper

NM_032408.4

p.S1337N

c.4010G>A

1 paper

NM_032408.4

p.R1339W

c.4015C>T

1 paper

NM_032408.4

p.R1340K

c.4019G>A

1 paper

NM_032408.4

p.R1340R

c.4020G>A

1 paper

NM_032408.4

p.E1350K

c.4048G>A

1 paper

NM_032408.4

p.Y1358H

c.4072T>C

1 paper

NM_032408.4

p.T1381M

c.4142C>T