Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.V337V

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.V337V
c.1011G>A
Surrounding Variants
2 papers
NM_001033561.2
p.V337M
c.1009G>A
1 paper
NM_001033561.2
p.Q326L
c.977A>T
1 paper
NM_001033561.2
p.V352G
c.1055T>G
1 paper
NM_001033561.2
p.H359Q
c.1077C>G
1 paper
NM_001033561.2
p.H359Q
c.1077C>A
2 papers
NM_001033561.2
p.P364insFs
c.1091dupC
1 paper
NM_001033561.2
p.P364fs
c.1090_1091fs
1 paper
NM_001033561.2
p.N365fs
c.1093_1094fs
1 paper
NM_001033561.2
p.R367H
c.1100G>A
1 paper
NM_001033561.2
p.E320K
c.958G>A
1 paper
NM_001033561.2
p.P303S
c.907C>T
1 paper
NM_001033561.2
p.H297L
c.890A>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."