Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.N328_H329insFs

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.N328_H329insFs
c.984_985ins10
Surrounding Variants
2 papers
NM_001015877.2
p.H329N
c.985C>A
9 papers
NM_001015877.2
p.H329R
c.986A>G
19 papers
NM_001015877.2
p.H329L
c.986A>T
2 papers
NM_001015877.2
p.H329Q
c.987T>A
2 papers
NM_001015877.2
p.H329Q
c.987T>G
1 paper
NM_001015877.2
p.S330fs
c.988_989fs
1 paper
NM_001015877.2
p.C326W
c.978T>G
1 paper
NM_001015877.2
p.C326Y
c.977G>A
1 paper
NM_001015877.2
p.C326F
c.977G>T
1 paper
NM_001015877.2
p.G331_N332del1
c.992_994delGAA
1 paper
NM_001015877.2
p.G331E
c.992G>A
1 paper
NM_001015877.2
p.Y325*
c.975C>A
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