Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.E315*

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.E315*
c.943G>T
Surrounding Variants
1 paper
NM_001015877.2
p.I314N
c.941T>A
22 papers
NM_001015877.2
p.I314T
c.941T>C
8 papers
NM_001015877.2
p.I314V
c.940A>G
2 papers
NM_001015877.2
p.N316Y
c.946A>T
1 paper
NM_001015877.2
p.I314F
c.940A>T
1 paper
NM_001015877.2
p.N316S
c.947A>G
1 paper
NM_001015877.2
p.Y313*
c.939C>A
1 paper
NM_001015877.2
p.Y313*
c.939C>G
1 paper
NM_001015877.2
p.Y313C
c.938A>G
1 paper
NM_001015877.2
p.N316_M317delins
c.948_949delinsGT
1 paper
NM_001015877.2
p.M317delFs
c.949delA
1 paper
NM_001015877.2
p.M317fs
c.949_950fs
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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."