Varaico: Literature-Extracted Genetic Variants

BAZ2B

152 papers

RefSeq Summary

This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preferen...

Pfam Domains

MBDaa 739–813UCSCMethyl-CpG binding domain

DDTaa 1088–1149UCSCDDT domain

WSDaa 1372–1474UCSCWilliams-Beuren syndrome DDT (WSD), D-TOX E motif

Gene Aliases

HGNC Name

bromodomain adjacent to zinc finger domain 2B

HGNC Alias Symbol

WALp4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013450.4

p.Q562L

c.1685A>T

Surrounding Variants

1 paper

NM_013450.4

p.G563W

c.1687G>T

1 paper

NM_013450.4

p.E565K

c.1693G>A

1 paper

NM_013450.4

p.S556C

c.1667C>G

1 paper

NM_013450.4

p.S569I

c.1706G>T

1 paper

NM_013450.4

p.A555V

c.1664C>T

1 paper

NM_013450.4

p.S554C

c.1661C>G

1 paper

NM_013450.4

p.T577insFs

c.1730dupC

2 papers

NM_013450.4

p.F591L

c.1771T>C

2 papers

NM_013450.4

p.F591L

c.1773C>G

2 papers

NM_013450.4

p.F591L

c.1773C>A

1 paper

NM_013450.4

p.G593R

c.1777G>C

1 paper

NM_013450.4

p.G593R

c.1777G>A