Varaico: Literature-Extracted Genetic Variants

Gene:PHF12

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
1–12 of 100 variants
4 papers
NM_001033561.2
p.N737S
c.2210A>G
2 papers
NM_001033561.2
p.S142*
c.425C>A
2 papers
NM_001033561.2
p.V337M
c.1009G>A
2 papers
NM_001033561.2
p.P364insFs
c.1091dupC
2 papers
NM_001033561.2
p.R765W
c.2293C>T
1 paper
NM_001033561.2
p.M1insFs
c.2dupT
1 paper
NM_001033561.2
p.M1I
c.3G>A
1 paper
NM_001033561.2
p.I10L
c.28A>C
1 paper
NM_001033561.2
p.I10I
c.30C>T
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.E22K
c.64G>A
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