Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.K299N

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.K299N
c.897G>C
Surrounding Variants
1 paper
NM_001015877.2
p.K299N
c.897G>T
1 paper
NM_001015877.2
p.T300fs
c.898_899fs
1 paper
NM_001015877.2
p.T300P
c.898A>C
6 papers
NM_001015877.2
p.T300A
c.898A>G
1 paper
NM_001015877.2
p.K299fs
c.895_896fs
3 papers
NM_001015877.2
p.K299_T300insS
c.895_899ins3
1 paper
NM_001015877.2
p.T300delFs
c.900delT
1 paper
NM_001015877.2
p.T300_Y301insFs
c.900_901insTA
1 paper
NM_001015877.2
p.Y301Fs
c.901delinsACFs
1 paper
NM_001015877.2
p.Y301D
c.901T>G
3 papers
NM_001015877.2
p.Y301insFs
c.902dupA
1 paper
NM_001015877.2
p.Y301insFs
c.902_903ins4
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."