Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.H239D

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.H239D
c.715C>G
Surrounding Variants
2 papers
NM_001015877.2
p.H239fs
c.715_716fs
5 papers
NM_001015877.2
p.H239Y
c.715C>T
1 paper
NM_001015877.2
p.H239fs
c.715_716fs
1 paper
NM_001015877.2
p.H239insFs
c.716_717ins8
2 papers
NM_001015877.2
p.H239P
c.716A>C
1 paper
NM_001015877.2
p.H239R
c.716A>G
1 paper
NM_001015877.2
p.A238_H239insFs
c.714_715insTC
1 paper
NM_001015877.2
p.A238V
c.713C>T
2 papers
NM_001015877.2
p.A238insFs
c.713dupC
1 paper
NM_001015877.2
p.A238fs
c.712_713fs
1 paper
NM_001015877.2
p.A238delins
c.712_714delinsTGA
1 paper
NM_001015877.2
p.Y240fs
c.718_719fs
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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."