Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.A1229G

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.A1229G
c.3686C>G
Surrounding Variants
1 paper
NM_001300905.2
p.A1186V
c.3557C>T
1 paper
NM_001300905.2
p.A1186T
c.3556G>A
1 paper
NM_001300905.2
p.T1151S
c.3452C>G
1 paper
NM_001300905.2
p.T1151S
c.3451A>T
1 paper
NM_001300905.2
p.D1309_S1314delFs
c.3926_3941del16
1 paper
NM_001300905.2
p.S1325S
c.3975A>C
1 paper
NM_001300905.2
p.A1326P
c.3976G>C
1 paper
NM_001300905.2
p.P1338S
c.4012C>T
1 paper
NM_001300905.2
p.A1339A
c.4017A>T
1 paper
NM_001300905.2
p.P1428L
c.4283C>T
1 paper
NM_001300905.2
p.L1126F
c.3378G>T
1 paper
NM_001300905.2
p.L1126F
c.3378G>C
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