Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.K273E

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.K273E
c.817A>G
Surrounding Variants
1 paper
NM_001015877.2
p.K273fs
c.817_818fs
1 paper
NM_001015877.2
p.K273*
c.817A>T
1 paper
NM_001015877.2
p.K273fs
c.817_818fs
1 paper
NM_001015877.2
p.K273R
c.818A>G
1 paper
NM_001015877.2
p.K273delFs
c.817delA
1 paper
NM_001015877.2
p.R274fs
c.820_821fs
52 papers
NM_001015877.2
p.R274*
c.820C>T
47 papers
NM_001015877.2
p.R274Q
c.821G>A
1 paper
NM_001015877.2
p.R274L
c.821G>T
8 papers
NM_001015877.2
p.G275R
c.823G>A
7 papers
NM_001015877.2
p.G275R
c.823G>C
1 paper
NM_001015877.2
p.E271*
c.811G>T
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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."