Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.N36fs

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.N36fs
c.106_107fs
Surrounding Variants
1 paper
NM_001015877.2
p.N36fs
c.106_107fs
1 paper
NM_001015877.2
p.Q37insFs
c.110dupA
2 papers
NM_001015877.2
p.Q37*
c.109C>T
1 paper
NM_001015877.2
p.N36insFs
c.107dupA
2 papers
NM_001015877.2
p.E35*
c.103G>T
1 paper
NM_001015877.2
p.Q37R
c.110A>G
1 paper
NM_001015877.2
p.S34Y
c.101C>A
3 papers
NM_001015877.2
p.S34F
c.101C>T
1 paper
NM_001015877.2
p.K38fs
c.112_113fs
1 paper
NM_001015877.2
p.K38_V39insT
c.112_116ins3
1 paper
NM_001015877.2
p.K38E
c.112A>G
1 paper
NM_001015877.2
p.S34fs
c.100_101fs
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