Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.P550T

PHF12

119 papers

Pfam Domains

PHDaa 58–102UCSCPHD-finger
PHF12_MRG_bdaa 202–241UCSCPHD finger protein 12 MRG binding domain
PHDaa 274–317UCSCPHD-finger

Gene Aliases

HGNC Name

PHD finger protein 12

HGNC Alias Symbols

PF1; KIAA1523

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033561.2
p.P550T
c.1648C>A
Surrounding Variants
1 paper
NM_001033561.2
p.N548S
c.1643A>G
1 paper
NM_001033561.2
p.E527K
c.1579G>A
1 paper
NM_001033561.2
p.A590V
c.1769C>T
1 paper
NM_001033561.2
p.G592V
c.1775G>T
1 paper
NM_001033561.2
p.L506M
c.1516C>A
1 paper
NM_001033561.2
p.H491Q
c.1473C>G
1 paper
NM_001033561.2
p.H491Q
c.1473C>A
1 paper
NM_001033561.2
p.T488I
c.1463C>T
1 paper
NM_001033561.2
p.K485_T486delFs
c.1454_1457del4
1 paper
NM_001033561.2
p.V476I
c.1426G>A
1 paper
NM_001033561.2
p.S630R
c.1888A>C
1 paper
NM_001033561.2
p.S630R
c.1890C>G
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