Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.T102I

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.T102I
c.305C>T
Surrounding Variants
1 paper
NM_001015877.2
p.T102delFs
c.306delA
1 paper
NM_001015877.2
p.T102_H104delFs
c.306_310del5
1 paper
NM_001015877.2
p.Y103insFs
c.308dupA
1 paper
NM_001015877.2
p.Y103fs
c.307_308fs
1 paper
NM_001015877.2
p.Y103fs
c.307_308fs
2 papers
NM_001015877.2
p.Y103*
c.309C>A
1 paper
NM_001015877.2
p.Y103*
c.309C>G
1 paper
NM_001015877.2
p.H104R
c.311A>G
1 paper
NM_001015877.2
p.H104L
c.311A>T
1 paper
NM_001015877.2
p.H100N
c.298C>A
1 paper
NM_001015877.2
p.H100insFs
c.298_299insG
1 paper
NM_001015877.2
p.H100fs
c.298_299fs
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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."