Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.E139D

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.E139D
c.417A>T
Surrounding Variants
1 paper
NM_001015877.2
p.E139D
c.417A>C
2 papers
NM_001015877.2
p.A140T
c.418G>A
1 paper
NM_001015877.2
p.A140V
c.419C>T
4 papers
NM_001015877.2
p.A140Splc
c.418+1G>A
1 paper
NM_001015877.2
p.E139K
c.415G>A
3 papers
NM_001015877.2
p.E139*
c.415G>T
1 paper
NM_001015877.2
p.E139_A140insFs
c.415_418dup4
1 paper
NM_001015877.2
p.A140Splc
c.418+2T>G
2 papers
NM_001015877.2
p.S138C
c.413C>G
1 paper
NM_001015877.2
p.N137fs
c.409_410fs
1 paper
NM_001015877.2
p.H136_N137insFs
c.408_409insC
1 paper
NM_001015877.2
p.H136D
c.406C>G
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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."