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.E1279*

c.3835G>T

Surrounding Variants

1 paper

NM_001370348.2

p.K1321N

c.3963A>C

1 paper

NM_001370348.2

p.K1321N

c.3963A>T

1 paper

NM_001370348.2

p.H1337R

c.4010A>G

1 paper

NM_001370348.2

p.P1339L

c.4016C>T

1 paper

NM_001370348.2

p.R1348H

c.4043G>A

1 paper

NM_001370348.2

p.S1382delFs

c.4144delA

1 paper

NM_001370348.2

p.T1388K

c.4163C>A

1 paper

NM_001370348.2

p.N1411S

c.4232A>G

1 paper

NM_001370348.2

p.V1466M

c.4396G>A

1 paper

NM_001370348.2

p.I1469V

c.4405A>G

1 paper

NM_001370348.2

p.T1477A

c.4429A>G

1 paper

NM_001370348.2

p.S1505*

c.4514C>A