Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.P1624L

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.P1624L
c.4871C>T
Surrounding Variants
1 paper
NM_001300905.2
p.P1603S
c.4807C>T
1 paper
NM_001300905.2
p.V1672I
c.5014G>A
1 paper
NM_001300905.2
p.C1538insFs
c.4612_4613insA
1 paper
NM_001300905.2
p.F1688L
c.5064T>G
1 paper
NM_001300905.2
p.R1697C
c.5089C>T
1 paper
NM_001300905.2
p.R1705H
c.5114G>A
1 paper
NM_013449.4
p.R1527Q
c.4580G>A
1 paper
NM_001300905.2
p.K1733E
c.5197A>G
1 paper
NM_001300905.2
p.R1739C
c.5215C>T
1 paper
NM_001300905.2
p.R1743W
c.5227C>T
1 paper
NM_001300905.2
p.S1752S
c.5256A>G
1 paper
NM_001300905.2
p.P1428L
c.4283C>T
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