Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.R765W

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.R765W
c.2293C>T
Surrounding Variants
1 paper
NM_001033561.2
p.R765Q
c.2294G>A
1 paper
NM_001033561.2
p.Q760E
c.2278C>G
1 paper
NM_001033561.2
p.P770insFs
c.2308dupC
4 papers
NM_001033561.2
p.N737S
c.2210A>G
1 paper
NM_001033561.2
p.K699E
c.2095A>G
1 paper
NM_001033561.2
p.R795Q
c.2384G>A
1 paper
NM_001033561.2
p.F798F
c.2394C>T
1 paper
NM_001033561.2
p.P692A
c.2074C>G
1 paper
NM_001033561.2
p.I680V
c.2038A>G
1 paper
NM_001033561.2
p.G677E
c.2030G>A
1 paper
NM_001033561.2
p.D656H
c.1966G>C
1 paper
NM_001033561.2
p.P653P
c.1959G>A
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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."