Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.I230_F231ins7

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.I230_F231ins7
c.688_692ins21
Surrounding Variants
3 papers
NM_001015877.2
p.H229Q
c.687T>A
3 papers
NM_001015877.2
p.H229Q
c.687T>G
10 papers
NM_001015877.2
p.H229R
c.686A>G
1 paper
NM_001015877.2
p.H229N
c.685C>A
1 paper
NM_001015877.2
p.H229fs
c.685_686fs
1 paper
NM_001015877.2
p.F231fs
c.691_692fs
1 paper
NM_001015877.2
p.L228L
c.684G>A
1 paper
NM_001015877.2
p.L228_K235Fs
c.684_705delinsCCCFs
1 paper
NM_032335.3
p.L229Q
c.686T>A
1 paper
NM_001015877.2
p.F231_N232insFs
c.693_694ins10
1 paper
NM_001015877.2
p.L228delFs
c.684delG
1 paper
NM_032335.3
p.A234T
c.700G>A
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