Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.D333del1

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
18 papers
NM_001015877.2
p.D333del1
c.997_998delGAT
Surrounding Variants
1 paper
NM_001015877.2
p.G331E
c.992G>A
5 papers
NM_001015877.2
p.D333fs
c.997_998fs
1 paper
NM_001015877.2
p.G331_N332del1
c.992_994delGAA
1 paper
NM_001015877.2
p.D333V
c.998A>T
1 paper
NM_001015877.2
p.E334_R335delFs
c.1000_1003del4
1 paper
NM_001015877.2
p.S330fs
c.988_989fs
1 paper
NM_001015877.2
p.E334Q
c.1000G>C
1 paper
NM_001015877.2
p.E334fs
c.1000_1001fs
1 paper
NM_001015877.2
p.R335Fs
c.1003delinsGAFs
2 papers
NM_001015877.2
p.H329Q
c.987T>A
2 papers
NM_001015877.2
p.H329Q
c.987T>G
9 papers
NM_001015877.2
p.H329R
c.986A>G
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