Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.R225*

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
31 papers
NM_001015877.2
p.R225*
c.673C>T
Surrounding Variants
8 papers
NM_001015877.2
p.G226delFs
c.677delG
1 paper
NM_001015877.2
p.G226R
c.676G>A
1 paper
NM_001015877.2
p.G226R
c.676G>C
8 papers
NM_001015877.2
p.G226fs
c.676_677fs
5 papers
NM_001015877.2
p.G226fs
c.676_677fs
1 paper
NM_001015877.2
p.E223V
c.668A>T
1 paper
NM_001015877.2
p.E223*
c.667G>T
1 paper
NM_001015877.2
p.N222insFs
c.666dupT
1 paper
NM_001015877.2
p.N222fs
c.664_665fs
1 paper
NM_001015877.2
p.E221E
c.663A>G
1 paper
NM_032335.3
p.L229Q
c.686T>A
1 paper
NM_001015877.2
p.L228delFs
c.684delG
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