Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.R196insFs

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.R196insFs
c.586_587insA
Surrounding Variants
1 paper
NM_001015877.2
p.R196delFs
c.586delA
1 paper
NM_001015877.2
p.R196fs
c.586_587fs
1 paper
NM_001015877.2
p.R196G
c.586A>G
1 paper
NM_001015877.2
p.R196delFs
c.586_587delAG
1 paper
NM_001015877.2
p.D197_R198insFs
c.590_593dup4
2 papers
NM_001015877.2
p.D197_R198delFs
c.590_593del4
1 paper
NM_001015877.2
p.Y195_R196Splc
c.586-4G>T
1 paper
NM_001015877.2
p.D197fs
c.589_590fs
1 paper
NM_001015877.2
p.D197G
c.590A>G
1 paper
NM_001015877.2
p.R198insFs
c.592dupA
1 paper
NM_001015877.2
p.R198fs
c.592_593fs
1 paper
NM_001015877.2
p.Y195_R196Splc
c.586-9C>A
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