Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.H73_S74insFs

BAZ2A

80 papers

Pfam Domains

MBDaa 544–618UCSCMethyl-CpG binding domain
DDTaa 847–908UCSCDDT domain
WHIM1aa 947–991UCSCWSTF, HB1, Itc1p, MBD9 motif 1
WSDaa 1109–1471UCSCWilliams-Beuren syndrome DDT (WSD), D-TOX E motif
PHDaa 1677–1721UCSCPHD-finger
Bromodomainaa 1800–1883UCSCBromodomain

Gene Aliases

HGNC Name

bromodomain adjacent to zinc finger domain 2A

HGNC Alias Symbols

KIAA0314; TIP5; WALp3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001300905.2
p.H73_S74insFs
c.219_220insA
Surrounding Variants
1 paper
NM_001300905.2
p.H73Y
c.217C>T
1 paper
NM_001300905.2
p.S74fs
c.220_221fs
1 paper
NM_001300905.2
p.P83S
c.247C>T
1 paper
NM_001300905.2
p.D88N
c.262G>A
1 paper
NM_001300905.2
p.G55A
c.164G>C
1 paper
NM_001300905.2
p.S94*
c.281C>G
1 paper
NM_001300905.2
p.S94*
c.281C>A
1 paper
NM_001300905.2
p.P101S
c.301C>T
1 paper
NM_001300905.2
p.P109S
c.325C>T
1 paper
NM_001300905.2
p.Y119_P120insC
c.355_359ins3
1 paper
NM_001300905.2
p.L140V
c.418C>G
1 paper
NM_001300905.2
p.A142V
c.425C>T
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