Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.D309D

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.D309D
c.927C>T
Surrounding Variants
1 paper
NM_001015877.2
p.K310Q
c.928A>C
1 paper
NM_001015877.2
p.K310I
c.929A>T
1 paper
NM_001015877.2
p.Q308H
c.924A>C
1 paper
NM_001015877.2
p.Q308H
c.924A>T
1 paper
NM_001015877.2
p.A311T
c.931G>A
4 papers
NM_001015877.2
p.A311P
c.931G>C
2 papers
NM_001015877.2
p.A311fs
c.931_932fs
2 papers
NM_001015877.2
p.A311_K312insFs
c.933_934insT
1 paper
NM_001015877.2
p.A311G
c.932C>G
2 papers
NM_001015877.2
p.Q308*
c.922C>T
1 paper
NM_001015877.2
p.A311V
c.932C>T
1 paper
NM_001015877.2
p.Y313_M317del5
c.937_950del15
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."