Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Y303*

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
6 papers
NM_001015877.2
p.Y303*
c.909C>A
Surrounding Variants
6 papers
NM_001015877.2
p.Y303*
c.909C>G
1 paper
NM_001015877.2
p.Y303C
c.908A>G
1 paper
NM_001015877.2
p.H304Y
c.910C>T
2 papers
NM_001015877.2
p.H304P
c.911A>C
3 papers
NM_001015877.2
p.Y303fs
c.907_908fs
1 paper
NM_001015877.2
p.H304Q
c.912C>A
1 paper
NM_001015877.2
p.H304Q
c.912C>G
1 paper
NM_001015877.2
p.H302P
c.905A>C
3 papers
NM_001015877.2
p.H302R
c.905A>G
1 paper
NM_001015877.2
p.H302L
c.905A>T
2 papers
NM_001015877.2
p.C305S
c.913T>A
1 paper
NM_001015877.2
p.C305R
c.913T>C
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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."