Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.D148N

PHF2

108 papers

RefSeq Summary

This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD ...

Pfam Domains

PHDaa 8–53UCSCPHD-finger
JmjCaa 236–336UCSCJmjC domain, hydroxylase
JHDaa 340–443UCSCJumonji helical domain

Gene Aliases

HGNC Name

PHD finger protein 2

HGNC Alias Symbols

KIAA0662; JHDM1E; CENP-35; KDM7C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005392.4
p.D148N
c.442G>A
Surrounding Variants
1 paper
NM_005392.4
p.D148G
c.443A>G
1 paper
NM_005392.4
p.V129I
c.385G>A
1 paper
NM_005392.4
p.G122_P126del5
c.364_377del15
1 paper
NM_005392.4
p.A106V
c.317C>T
1 paper
NM_005392.4
p.D103D
c.309C>T
1 paper
NM_005392.4
p.D160_V161insA
c.478_482ins3
1 paper
NM_005392.4
p.D163Y
c.487G>T
1 paper
NM_005392.4
p.E196K
c.586G>A
1 paper
NM_005392.4
p.R201insFs
c.601_602ins4
1 paper
NM_005392.4
p.D251A
c.752A>C
1 paper
NM_005392.4
p.K263_G264Splc
c.789+16C>T
2 papers
NM_005392.4
p.A287T
c.859G>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."