Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.S1058L

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
2 papers
NM_005392.4
p.S1058L
c.3173C>T
Surrounding Variants
1 paper
NM_005392.4
p.R1053G
c.3157A>G
1 paper
NM_005392.4
p.T1064T
c.3192C>T
1 paper
NM_005392.4
p.A1065T
c.3193G>A
1 paper
NM_005392.4
p.Q1042H
c.3126G>C
1 paper
NM_005392.4
p.Q1042H
c.3126G>T
1 paper
NM_005392.4
p.T998P
c.2992A>C
1 paper
NM_005392.4
p.S997T
c.2990G>C
3 papers
NM_005392.4
p.T992T
c.2976C>A
1 paper
NM_005392.4
p.T992A
c.2974A>G
5 papers
NM_005392.4
p.P988P
c.2964G>T
1 paper
NM_005392.4
p.P988insFs
c.2963_2964ins8
1 paper
NM_005392.4
p.T987T
c.2961C>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."