Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.G1068Splc

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.G1068Splc
c.3203-2A>G
Surrounding Variants
1 paper
NM_005392.4
p.R1070H
c.3209G>A
1 paper
NM_005392.4
p.Q1080Q
c.3240G>A
1 paper
NM_005392.4
p.I1088delFs
c.3264delT
1 paper
NM_005392.4
p.H1089fs
c.3265_3266fs
1 paper
NM_005392.4
p.L1096F
c.3286C>T
1 paper
NM_005392.4
p.A1065T
c.3193G>A
1 paper
NM_005392.4
p.T1064T
c.3192C>T
2 papers
NM_005392.4
p.S1058L
c.3173C>T
1 paper
NM_005392.4
p.R1053G
c.3157A>G
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
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