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.R1191Q

c.3572G>A

Surrounding Variants

1 paper

NM_032408.4

p.T1161I

c.3482C>T

1 paper

NM_032408.4

p.E1150K

c.3448G>A

1 paper

NM_032408.4

p.E1195*

c.3583G>T

1 paper

NM_032408.4

p.D1203N

c.3607G>A

1 paper

NM_032408.4

p.L1218L

c.3654C>T

2 papers

NM_032408.4

p.G1224D

c.3671G>A

1 paper

NM_032408.4

p.Q1232H

c.3696G>T

1 paper

NM_032408.4

p.Q1232H

c.3696G>C

1 paper

NM_032408.4

p.R1238C

c.3712C>T

1 paper

NM_032408.4

p.R1238H

c.3713G>A

1 paper

NM_032408.4

p.S1259C

c.3775A>T

1 paper

NM_032408.4

p.E1262Q

c.3784G>C