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.E581Q

c.1741G>C

Surrounding Variants

1 paper

NM_032408.4

p.G587D

c.1760G>A

1 paper

NM_032408.4

p.L574S

c.1721T>C

1 paper

NM_032408.4

p.P591A

c.1771C>G

1 paper

NM_032408.4

p.E569*

c.1705G>T

1 paper

NM_032408.4

p.V596L

c.1786G>T

1 paper

NM_032408.4

p.V596L

c.1786G>C

1 paper

NM_032408.4

p.K561N

c.1683A>T

1 paper

NM_032408.4

p.K561N

c.1683A>C

1 paper

NM_032408.4

p.E600E

c.1800A>G

1 paper

NM_032408.4

p.L554Q

c.1661T>A

1 paper

NM_032408.4

p.K549N

c.1647G>T

1 paper

NM_032408.4

p.K549N

c.1647G>C