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.V827F

c.2479G>T

Surrounding Variants

1 paper

NM_001370348.2

p.T790A

c.2368A>G

1 paper

NM_001370348.2

p.T784insFs

c.2352dupT

3 papers

NM_001370348.2

p.K776T

c.2327A>C

1 paper

NM_001370348.2

p.C769del1

c.2305_2306delTGT

1 paper

NM_001370348.2

p.E759K

c.2275G>A

1 paper

NM_001370348.2

p.G758S

c.2272G>A

1 paper

NM_001370348.2

p.Q753K

c.2257C>A

1 paper

NM_001370348.2

p.M732T

c.2195T>C

1 paper

NM_001370348.2

p.R730S

c.2190G>T

1 paper

NM_001370348.2

p.R730Splc

c.2190-4C>T

1 paper

NM_001370348.2

p.D845_E847del3

c.2533_2540del9

1 paper

NM_001370348.2

p.D845_E847delFs

c.2534_2541del8