Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.D264H

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.D264H
c.790G>C
Surrounding Variants
1 paper
NM_001015877.2
p.D264Y
c.790G>T
16 papers
NM_001015877.2
p.F263L
c.789T>A
16 papers
NM_001015877.2
p.F263L
c.789T>G
3 papers
NM_001015877.2
p.D264_I265insFs
c.792_793insC
1 paper
NM_001015877.2
p.I265insFs
c.795dupT
3 papers
NM_001015877.2
p.I265fs
c.793_794fs
16 papers
NM_001015877.2
p.F263L
c.787T>C
1 paper
NM_001015877.2
p.F263fs
c.787_788fs
1 paper
NM_001015877.2
p.D262E
c.786C>A
1 paper
NM_001015877.2
p.D262E
c.786C>G
1 paper
NM_001015877.2
p.F263delFs
c.788_789delTT
2 papers
NM_001015877.2
p.D262V
c.785A>T
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