Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.R116delFs

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.R116delFs
c.346_347delCG
Surrounding Variants
44 papers
NM_001015877.2
p.R116*
c.346C>T
1 paper
NM_001015877.2
p.R116fs
c.346_347fs
1 paper
NM_001015877.2
p.R116Q
c.347G>A
1 paper
NM_001015877.2
p.Q114*
c.340C>T
1 paper
NM_001015877.2
p.K112T
c.335A>C
1 paper
NM_001015877.2
p.P119fs
c.355_356fs
1 paper
NM_001015877.2
p.P119insFs
c.357dupT
1 paper
NM_001015877.2
p.P119L
c.356C>T
1 paper
NM_001015877.2
p.P119P
c.357T>C
2 papers
NM_001015877.2
p.D111fs
c.331_332fs
1 paper
NM_001015877.2
p.H110L
c.329A>T
1 paper
NM_001015877.2
p.Q121*
c.361C>T
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."