Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.L269_Q270ins1

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.L269_Q270ins1
c.807_808insGGC
Surrounding Variants
1 paper
NM_001015877.2
p.L269_Q270insFs
c.807_808insGA
1 paper
NM_001015877.2
p.Q270insFs
c.808_809insCA
1 paper
NM_001015877.2
p.Q270fs
c.808_809fs
4 papers
NM_001015877.2
p.Q270*
c.808C>T
1 paper
NM_001015877.2
p.Q270fs
c.808_809fs
1 paper
NM_001015877.2
p.L269fs
c.805_806fs
1 paper
NM_001015877.2
p.E271*
c.811G>T
2 papers
NM_001015877.2
p.V268I
c.802G>A
2 papers
NM_001015877.2
p.V268L
c.802G>C
1 paper
NM_001015877.2
p.V268fs
c.802_803fs
2 papers
NM_001015877.2
p.V268L
c.802G>T
1 paper
NM_001015877.2
p.V268fs
c.802_803fs
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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."