Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.S318fs

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
2 papers
NM_001015877.2
p.S318fs
c.952_953fs
Surrounding Variants
1 paper
NM_001015877.2
p.S318A
c.952T>G
2 papers
NM_001015877.2
p.S318*
c.953C>A
2 papers
NM_001015877.2
p.S318insFs
c.954dupA
2 papers
NM_001015877.2
p.S318*
c.953C>G
1 paper
NM_001015877.2
p.M317I
c.951G>A
1 paper
NM_001015877.2
p.M317I
c.951G>C
1 paper
NM_001015877.2
p.M317I
c.951G>T
1 paper
NM_001015877.2
p.S318S
c.954A>G
1 paper
NM_001015877.2
p.M317K
c.950T>A
1 paper
NM_001015877.2
p.M317fs
c.949_950fs
38 papers
NM_001015877.2
p.R319*
c.955C>T
1 paper
NM_001015877.2
p.R319ins3
c.956_957ins9
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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."