Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C326Y

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.C326Y
c.977G>A
Surrounding Variants
1 paper
NM_001015877.2
p.C326F
c.977G>T
1 paper
NM_001015877.2
p.C326W
c.978T>G
1 paper
NM_001015877.2
p.Y325*
c.975C>A
1 paper
NM_001015877.2
p.Y325*
c.975C>G
1 paper
NM_001015877.2
p.Y325C
c.974A>G
4 papers
NM_001015877.2
p.Y325H
c.973T>C
1 paper
NM_001015877.2
p.Y325fs
c.973_974fs
2 papers
NM_001015877.2
p.L324P
c.971T>C
1 paper
NM_001015877.2
p.L324fs
c.970_971fs
1 paper
NM_001015877.2
p.N328_H329insFs
c.984_985ins10
1 paper
NM_001015877.2
p.L324delFs
c.970_971delCT
2 papers
NM_001015877.2
p.H329N
c.985C>A
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