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

2 papers

NM_001370348.2

p.H1109_R1110delFs

c.3326_3329del4

Surrounding Variants

1 paper

NM_001370348.2

p.H1109fs

c.3325_3326fs

1 paper

NM_001370348.2

p.R1110fs

c.3328_3329fs

1 paper

NM_001370348.2

p.P1088A

c.3262C>G

1 paper

NM_001370348.2

p.A1081fs

c.3241_3242fs

1 paper

NM_001370348.2

p.A1081delFs

c.3241_3242delGC

1 paper

NM_001370348.2

p.E1069K

c.3205G>A

1 paper

NM_001370348.2

p.R1047*

c.3139C>T

1 paper

NM_001370348.2

p.S1133_K1136del4

c.3397_3407del12

1 paper

NM_001370348.2

p.P1134delFs

c.3402delA

1 paper

NM_001370348.2

p.R1188C

c.3562C>T

1 paper

NM_001370348.2

p.S1199P

c.3595T>C

1 paper

NM_001370348.2

p.M1013V

c.3037A>G