Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.Q917*

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
4 papers
NM_005392.4
p.Q917*
c.2749C>T
Surrounding Variants
1 paper
NM_005392.4
p.G933R
c.2797G>A
1 paper
NM_005392.4
p.G933R
c.2797G>C
1 paper
NM_005392.4
p.S893S
c.2679G>A
1 paper
NM_005392.4
p.K953insFs
c.2858dupA
2 papers
NM_005392.4
p.K953delFs
c.2858delA
1 paper
NM_005392.4
p.K951fs
c.2851_2852fs
1 paper
NM_005392.4
p.S954fs
c.2860_2861fs
1 paper
NM_005392.4
p.S980S
c.2940C>T
1 paper
NM_005392.4
p.T982T
c.2946G>C
1 paper
NM_005392.4
p.P983P
c.2949A>T
2 papers
NM_005392.4
p.S985S
c.2955T>C
1 paper
NM_005392.4
p.T987_P988ins4
c.2961_2962ins12
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