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.E889D

c.2667A>C

Surrounding Variants

1 paper

NM_032408.4

p.E889D

c.2667A>T

1 paper

NM_032408.4

p.A883S

c.2647G>T

1 paper

NM_032408.4

p.V897I

c.2689G>A

1 paper

NM_032408.4

p.R899C

c.2695C>T

1 paper

NM_032408.4

p.R877W

c.2629C>T

1 paper

NM_032408.4

p.E874del1

c.2620_2621delTTC

1 paper

NM_032408.4

p.R907Q

c.2720G>A

3 papers

NM_032408.4

p.S916*

c.2747C>G

3 papers

NM_032408.4

p.S916*

c.2747C>A

1 paper

NM_032408.4

p.H930L

c.2789A>T

1 paper

NM_032408.4

p.I933T

c.2798T>C

1 paper

NM_032408.4

p.H939Y

c.2815C>T