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.L1744*

c.5231T>G

Surrounding Variants

1 paper

NM_001370348.2

p.L1744*

c.5231T>A

1 paper

NM_001370348.2

p.R1755G

c.5263C>G

1 paper

NM_001370348.2

p.S1779N

c.5336G>A

1 paper

NM_001370348.2

p.S1810C

c.5429C>G

1 paper

NM_001370348.2

p.C1673Y

c.5018G>A

1 paper

NM_001370348.2

p.P1818L

c.5453C>T

1 paper

NM_001370348.2

p.S1827T

c.5480G>C

2 papers

NM_001370348.2

p.H1834Y

c.5500C>T

1 paper

NM_001370348.2

p.P1836S

c.5506C>T

1 paper

NM_001370348.2

p.P1843A

c.5527C>G

1 paper

NM_001370348.2

p.G1846S

c.5536G>A

1 paper

NM_001370348.2

p.R1867C

c.5599C>T