Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.S142*

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
2 papers
NM_001033561.2
p.S142*
c.425C>A
Surrounding Variants
1 paper
NM_001033561.2
p.S134_D135insFs
c.402_403insC
1 paper
NM_001033561.2
p.P164A
c.490C>G
1 paper
NM_001033561.2
p.T166K
c.497C>A
1 paper
NM_001033561.2
p.S169C
c.506C>G
1 paper
NM_001033561.2
p.S170S
c.510C>T
1 paper
NM_001033561.2
p.T173S
c.517A>T
1 paper
NM_001033561.2
p.T173A
c.517A>G
1 paper
NM_001033561.2
p.R109Q
c.326G>A
1 paper
NM_001033561.2
p.E179K
c.535G>A
1 paper
NM_001033561.2
p.A196T
c.586G>A
1 paper
NM_001033561.2
p.A197E
c.590C>A
1 paper
NM_001033561.2
p.A215V
c.644C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."