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.S476C

c.1426A>T

Surrounding Variants

1 paper

NM_001370348.2

p.V478I

c.1432G>A

1 paper

NM_001370348.2

p.P493L

c.1478C>T

1 paper

NM_001370348.2

p.N447K

c.1341T>A

1 paper

NM_001370348.2

p.N447K

c.1341T>G

1 paper

NM_001370348.2

p.S433I

c.1298G>T

1 paper

NM_001370348.2

p.E432K

c.1294G>A

2 papers

NM_001370348.2

p.V525I

c.1573G>A

1 paper

NM_001370348.2

p.E403K

c.1207G>A

1 paper

NM_001370348.2

p.S574Y

c.1721C>A

1 paper

NM_001370348.2

p.K378_D379delFs

c.1133_1136del4

1 paper

NM_001370348.2

p.Q583E

c.1747C>G

1 paper

NM_001370348.2

p.I588F

c.1762A>T