Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.E219D

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.E219D
c.657G>C
Surrounding Variants
1 paper
NM_001015877.2
p.E220*
c.658G>T
1 paper
NM_001015877.2
p.E220G
c.659A>G
2 papers
NM_001015877.2
p.E221_N222ins4
c.661_665ins12
4 papers
NM_001015877.2
p.E221*
c.661G>T
1 paper
NM_001015877.2
p.G218_E223Fs
c.653_667delinsCCCTTTAAAGGGAFs
1 paper
NM_001015877.2
p.G218fs
c.652_653fs
1 paper
NM_001015877.2
p.E221E
c.663A>G
1 paper
NM_001015877.2
p.N222fs
c.664_665fs
1 paper
NM_001015877.2
p.N222insFs
c.666dupT
1 paper
NM_001015877.2
p.E223*
c.667G>T
1 paper
NM_001015877.2
p.E223V
c.668A>T
1 paper
NM_001015877.2
p.C215*
c.645C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."