Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.D57A

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.D57A
c.170A>C
Surrounding Variants
1 paper
NM_001033561.2
p.C59R
c.175T>C
1 paper
NM_001033561.2
p.D67N
c.199G>A
1 paper
NM_001033561.2
p.H79Q
c.237C>A
1 paper
NM_001033561.2
p.P30A
c.88C>G
1 paper
NM_001033561.2
p.I24I
c.72C>T
1 paper
NM_001033561.2
p.E22G
c.65A>G
1 paper
NM_001033561.2
p.E22K
c.64G>A
1 paper
NM_001033561.2
p.D13Y
c.37G>T
1 paper
NM_001033561.2
p.D13N
c.37G>A
1 paper
NM_001033561.2
p.I10I
c.30C>T
1 paper
NM_001033561.2
p.I10L
c.28A>C
1 paper
NM_001033561.2
p.M1insFs
c.2dupT
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