Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.F214fs

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.F214fs
c.640_641fs
Surrounding Variants
2 papers
NM_001015877.2
p.C215insFs
c.643dupT
1 paper
NM_001015877.2
p.C215delFs
c.643delT
1 paper
NM_001015877.2
p.F214insFs
c.641_642insC
1 paper
NM_001015877.2
p.C215_A224del10
c.643_671del30
1 paper
NM_001015877.2
p.G213R
c.637G>A
1 paper
NM_001015877.2
p.G213R
c.637G>C
1 paper
NM_001015877.2
p.G213fs
c.637_638fs
2 papers
NM_001015877.2
p.C215S
c.643T>A
1 paper
NM_001015877.2
p.C215R
c.643T>C
2 papers
NM_001015877.2
p.C215fs
c.643_644fs
1 paper
NM_001015877.2
p.C215fs
c.643_644fs
4 papers
NM_001015877.2
p.C215Y
c.644G>A
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