Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.T289N

PHF6

545 papers

RefSeq Summary

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, th...

Pfam Domains

zf-HC5HC2Haa 42–132UCSCPHD-like zinc-binding domain
zf-HC5HC2Haa 239–330UCSCPHD-like zinc-binding domain

Gene Aliases

HGNC Name

PHD finger protein 6

HGNC Previous Symbols

BFLS; BORJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001015877.2
p.T289N
c.866C>A
Surrounding Variants
1 paper
NM_001015877.2
p.T289A
c.865A>G
1 paper
NM_001015877.2
p.I290insFs
c.870dupT
1 paper
NM_001015877.2
p.A288V
c.863C>T
1 paper
NM_001015877.2
p.I290N
c.869T>A
1 paper
NM_001015877.2
p.I290T
c.869T>C
3 papers
NM_001015877.2
p.A288T
c.862G>A
1 paper
NM_001015877.2
p.A288P
c.862G>C
1 paper
NM_001015877.2
p.A288fs
c.862_863fs
1 paper
NM_001015877.2
p.G291fs
c.871_872fs
1 paper
NM_001015877.2
p.G291_C292insC
c.871_875ins3
1 paper
NM_001015877.2
p.G291*
c.871G>T
1 paper
NM_001015877.2
p.G287Fs
c.861delinsCAGAGAFs
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