Varaico: Literature-Extracted Genetic Variants

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

TFIIS_Maa 923–1038UCSCTranscription factor S-II (TFIIS), central 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.K1917E

c.5749A>G

Surrounding Variants

1 paper

NM_001370348.2

p.R1915T

c.5744G>C

1 paper

NM_001370348.2

p.D1910Y

c.5728G>T

1 paper

NM_001370348.2

p.R1934*

c.5800C>T

1 paper

NM_001370348.2

p.E1938V

c.5813A>T

1 paper

NM_001370348.2

p.E1894D

c.5682A>C

1 paper

NM_001370348.2

p.E1894D

c.5682A>T

1 paper

NM_001370348.2

p.K1888R

c.5663A>G

1 paper

NM_001370348.2

p.S1873L

c.5618C>T

1 paper

NM_001370348.2

p.R1867H

c.5600G>A

1 paper

NM_001370348.2

p.R1867C

c.5599C>T

1 paper

NM_001370348.2

p.H1976R

c.5927A>G

1 paper

NM_001370348.2

p.G1846S

c.5536G>A