Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.L194del1

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.L194del1
c.580_582delCAA
Surrounding Variants
1 paper
NM_001300905.2
p.P192del1
c.574_576delAGG
1 paper
NM_001300905.2
p.T190I
c.569C>T
1 paper
NM_001300905.2
p.Q172*
c.514C>T
1 paper
NM_001300905.2
p.K219_E220insA
c.655_659ins3
1 paper
NM_001300905.2
p.P170H
c.509C>A
1 paper
NM_001300905.2
p.P170S
c.508C>T
1 paper
NM_001300905.2
p.M221V
c.661A>G
1 paper
NM_001300905.2
p.S168F
c.503C>T
1 paper
NM_001300905.2
p.E227Q
c.679G>C
1 paper
NM_001300905.2
p.N159delins
c.476_477delinsGT
1 paper
NM_001300905.2
p.E241*
c.721G>T
1 paper
NM_001300905.2
p.F147del1
c.439_440delGAA
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