Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.G122fs

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.G122fs
c.364_365fs
Surrounding Variants
1 paper
NM_001015877.2
p.G122_I123insT
c.364_368ins3
4 papers
NM_001015877.2
p.G122*
c.364G>T
1 paper
NM_001015877.2
p.I123insFs
c.368_369insT
1 paper
NM_001015877.2
p.Q121*
c.361C>T
1 paper
NM_001015877.2
p.I123M
c.369T>G
1 paper
NM_001015877.2
p.I123_Y124insFs
c.369_370insGG
1 paper
NM_001015877.2
p.Y124fs
c.370_371fs
1 paper
NM_001015877.2
p.Y124_M125ins5
c.370_374ins15
1 paper
NM_001015877.2
p.Y124fs
c.370_371fs
1 paper
NM_001015877.2
p.P119P
c.357T>C
3 papers
NM_001015877.2
p.Y124*
c.372C>A
1 paper
NM_001015877.2
p.P119insFs
c.357dupT
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