Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.A288P

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
1 paper
NM_001015877.2
p.A288P
c.862G>C
Surrounding Variants
3 papers
NM_001015877.2
p.A288T
c.862G>A
1 paper
NM_001015877.2
p.A288fs
c.862_863fs
1 paper
NM_001015877.2
p.A288V
c.863C>T
1 paper
NM_001015877.2
p.G287Fs
c.861delinsCAGAGAFs
3 papers
NM_001015877.2
p.G287D
c.860G>A
2 papers
NM_001015877.2
p.G287A
c.860G>C
7 papers
NM_001015877.2
p.G287V
c.860G>T
1 paper
NM_001015877.2
p.G287delFs
c.861delT
1 paper
NM_001015877.2
p.T289A
c.865A>G
3 papers
NM_001015877.2
p.G287S
c.859G>A
1 paper
NM_001015877.2
p.G287R
c.859G>C
2 papers
NM_001015877.2
p.T289N
c.866C>A
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