Varaico: Literature-Extracted Genetic Variants

Gene:PHF3
Variant:p.V525I

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
2 papers
NM_001370348.2
p.V525I
c.1573G>A
Surrounding Variants
1 paper
NM_001370348.2
p.P493L
c.1478C>T
1 paper
NM_001370348.2
p.V478I
c.1432G>A
1 paper
NM_001370348.2
p.S476C
c.1426A>T
1 paper
NM_001370348.2
p.S574Y
c.1721C>A
1 paper
NM_001370348.2
p.Q583E
c.1747C>G
1 paper
NM_001370348.2
p.I588F
c.1762A>T
1 paper
NM_001370348.2
p.K590T
c.1769A>C
1 paper
NM_001370348.2
p.H594Y
c.1780C>T
1 paper
NM_001370348.2
p.D598H
c.1792G>C
1 paper
NM_001370348.2
p.N447K
c.1341T>A
1 paper
NM_001370348.2
p.N447K
c.1341T>G
1 paper
NM_001370348.2
p.S433I
c.1298G>T
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