Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.Q738*

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.Q738*
c.2212C>T
Surrounding Variants
2 papers
NM_001300905.2
p.R736Q
c.2207G>A
1 paper
NM_001300905.2
p.R736W
c.2206C>T
1 paper
NM_001300905.2
p.K741Q
c.2221A>C
1 paper
NM_001300905.2
p.Q729_G730delins
c.2185_2188delinsG
1 paper
NM_001300905.2
p.R803ins1
c.2408_2409insTTT
1 paper
NM_001300905.2
p.K714N
c.2142G>T
1 paper
NM_001300905.2
p.K714N
c.2142G>C
1 paper
NM_001300905.2
p.N701K
c.2103T>G
1 paper
NM_001300905.2
p.N701K
c.2103T>A
1 paper
NM_001300905.2
p.L833delFs
c.2497delG
1 paper
NM_001300905.2
p.R838*
c.2512C>T
1 paper
NM_001300905.2
p.Q895Q
c.2685A>G
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