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

1–12 of 140 variants

3 papers

NM_001370348.2

p.K776T

c.2327A>C

2 papers

NM_001370348.2

p.A36T

c.106G>A

2 papers

NM_001370348.2

p.V525I

c.1573G>A

2 papers

NM_001370348.2

p.A975G

c.2924C>G

2 papers

NM_001370348.2

p.H1109_R1110delFs

c.3326_3329del4

2 papers

NM_001370348.2

p.H1834Y

c.5500C>T

1 paper

NM_001370348.2

p.D5Y

c.13G>T

1 paper

NM_001370348.2

p.P12S

c.34C>T

1 paper

NM_001370348.2

p.T13I

c.38C>T

1 paper

NM_001370348.2

p.D18Y

c.52G>T

1 paper

NM_001370348.2

p.D72N

c.214G>A

1 paper

NM_001370348.2

p.S80*

c.239C>A