Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Y127*

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.Y127*
c.381T>G
Surrounding Variants
1 paper
NM_001015877.2
p.Y127*
c.381T>A
1 paper
NM_001015877.2
p.Y127_R129Fs
c.381_386delinsGCAAFs
3 papers
NM_001015877.2
p.C128_R129ins11
c.382_386ins33
1 paper
NM_001015877.2
p.Y127fs
c.379_380fs
3 papers
NM_001015877.2
p.Y127_C128ins14
c.379_383ins42
1 paper
NM_001015877.2
p.C128*
c.384C>A
1 paper
NM_001015877.2
p.Y127delFs
c.379_380delTA
1 paper
NM_001015877.2
p.R129_K130insGG
c.385_389ins6
22 papers
NM_001015877.2
p.R129*
c.385C>T
1 paper
NM_001015877.2
p.V126D
c.377T>A
1 paper
NM_001015877.2
p.K130delFs
c.390delA
1 paper
NM_001015877.2
p.V126delFs
c.377_378delTC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."