Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.L32ins1

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.L32ins1
c.94_95insCTA
Surrounding Variants
3 papers
NM_001015877.2
p.L32fs
c.94_95fs
1 paper
NM_001015877.2
p.L31_L32insFs
c.93_94insG
1 paper
NM_001015877.2
p.L32delFs
c.94_95delCT
3 papers
NM_001015877.2
p.L31*
c.92T>A
3 papers
NM_001015877.2
p.L31*
c.92T>G
2 papers
NM_001015877.2
p.L31insFs
c.93dupA
1 paper
NM_001015877.2
p.I33L
c.97A>C
1 paper
NM_001015877.2
p.I33L
c.97A>T
6 papers
NM_001015877.2
p.L31fs
c.91_92fs
1 paper
NM_001015877.2
p.Q30_L31insFs
c.90_91ins4
1 paper
NM_001015877.2
p.I33M
c.99A>G
5 papers
NM_001015877.2
p.Q30*
c.88C>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."