Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.E986A

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.E986A
c.2957A>C
Surrounding Variants
1 paper
NM_001033561.2
p.L979P
c.2936T>C
1 paper
NM_001033561.2
p.H948Q
c.2844C>G
1 paper
NM_001033561.2
p.S891insFs
c.2672_2673dupGT
1 paper
NM_001033561.2
p.S883fs
c.2647_2648fs
1 paper
NM_001033561.2
p.P882insFs
c.2645dupC
1 paper
NM_001033561.2
p.E847K
c.2539G>A
1 paper
NM_001033561.2
p.C842R
c.2524T>C
1 paper
NM_001033561.2
p.F798F
c.2394C>T
1 paper
NM_001033561.2
p.R795Q
c.2384G>A
1 paper
NM_001033561.2
p.P770insFs
c.2308dupC
1 paper
NM_001033561.2
p.R765Q
c.2294G>A
2 papers
NM_001033561.2
p.R765W
c.2293C>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."