Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Y301*

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
9 papers
NM_001015877.2
p.Y301*
c.903C>G
Surrounding Variants
9 papers
NM_001015877.2
p.Y301*
c.903C>A
1 paper
NM_001015877.2
p.Y301S
c.902A>C
1 paper
NM_001015877.2
p.Y301C
c.902A>G
1 paper
NM_001015877.2
p.Y301Fs
c.902_903delinsTTATTTGTTFs
1 paper
NM_001015877.2
p.H302N
c.904C>A
1 paper
NM_001015877.2
p.H302insFs
c.904_905ins7
1 paper
NM_001015877.2
p.H302fs
c.904_905fs
20 papers
NM_001015877.2
p.H302Y
c.904C>T
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
1 paper
NM_001015877.2
p.Y301Fs
c.901delinsACFs
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