Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.H100N

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.H100N
c.298C>A
Surrounding Variants
1 paper
NM_001015877.2
p.H100insFs
c.298_299insG
1 paper
NM_001015877.2
p.H100fs
c.298_299fs
3 papers
NM_001015877.2
p.C99*
c.297T>A
24 papers
NM_001015877.2
p.C99F
c.296G>T
1 paper
NM_001015877.2
p.C99fs
c.295_296fs
1 paper
NM_001015877.2
p.T98insFs
c.292_293insC
5 papers
NM_001015877.2
p.T98fs
c.292_293fs
1 paper
NM_001015877.2
p.T102_H104delFs
c.306_310del5
1 paper
NM_001015877.2
p.K97_T98insFs
c.291_292insC
1 paper
NM_001015877.2
p.T98_H100delFs
c.294_300del7
1 paper
NM_001015877.2
p.T102I
c.305C>T
1 paper
NM_001015877.2
p.T102delFs
c.306delA
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