Varaico: Literature-Extracted Genetic Variants

Gene:PHF3
Variant:p.C276Y

PHF3

112 papers

RefSeq Summary

This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in mu...

Pfam Domains

PHDaa 720–769UCSCPHD-finger
PHDaa 720–769UCSCPHD-finger
TFIIS_Maa 923–1038UCSCTranscription factor S-II (TFIIS), central domain
TFIIS_Maa 923–1038UCSCTranscription factor S-II (TFIIS), central domain
SPOCaa 1199–1349UCSCSPOC domain
SPOCaa 1199–1349UCSCSPOC domain

Gene Aliases

HGNC Name

PHD finger protein 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370348.2
p.C276Y
c.827G>A
Surrounding Variants
1 paper
NM_001370348.2
p.G282_S283del1
c.845_847delGTA
1 paper
NM_001370348.2
p.P284P
c.852A>G
1 paper
NM_001370348.2
p.L257delFs
c.769delC
1 paper
NM_001370348.2
p.H251D
c.751C>G
1 paper
NM_001370348.2
p.E245D
c.735A>C
1 paper
NM_001370348.2
p.E245D
c.735A>T
1 paper
NM_001370348.2
p.E324K
c.970G>A
1 paper
NM_001370348.2
p.E208V
c.623A>T
1 paper
NM_001370348.2
p.C186*
c.558T>A
1 paper
NM_001370348.2
p.K378_D379delFs
c.1133_1136del4
1 paper
NM_001370348.2
p.A152S
c.454G>T
1 paper
NM_001370348.2
p.E403K
c.1207G>A
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