Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.E421Q

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.E421Q
c.1261G>C
Surrounding Variants
1 paper
NM_005392.4
p.I432M
c.1296C>G
1 paper
NM_005392.4
p.N454Y
c.1360A>T
1 paper
NM_005392.4
p.P473L
c.1418C>T
1 paper
NM_005392.4
p.K492insFs
c.1475dupA
5 papers
NM_005392.4
p.K490delFs
c.1468delA
1 paper
NM_005392.4
p.K490delFs
c.1468_1469delAA
1 paper
NM_005392.4
p.K490fs
c.1468_1469fs
6 papers
NM_005392.4
p.K492fs
c.1474_1475fs
1 paper
NM_005392.4
p.T493fs
c.1477_1478fs
1 paper
NM_005392.4
p.P509fs
c.1525_1526fs
1 paper
NM_005392.4
p.R407*
c.1219C>T
1 paper
NM_005392.4
p.P393R
c.1178C>G
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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."