Varaico: Literature-Extracted Genetic Variants

Gene:PHF3
Variant:p.M1013V

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.M1013V
c.3037A>G
Surrounding Variants
1 paper
NM_001370348.2
p.K978N
c.2934G>C
1 paper
NM_001370348.2
p.K978N
c.2934G>T
2 papers
NM_001370348.2
p.A975G
c.2924C>G
1 paper
NM_001370348.2
p.F970insFs
c.2910dupT
1 paper
NM_001370348.2
p.A959V
c.2876C>T
1 paper
NM_001370348.2
p.A959S
c.2875G>T
1 paper
NM_001370348.2
p.V958G
c.2873T>G
1 paper
NM_001370348.2
p.L943F
c.2827C>T
1 paper
NM_001370348.2
p.K941K
c.2823G>A
1 paper
NM_001370348.2
p.Q926K
c.2776C>A
1 paper
NM_001370348.2
p.R1047*
c.3139C>T
1 paper
NM_001370348.2
p.E907K
c.2719G>A
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