Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.H42fs

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.H42fs
c.124_125fs
Surrounding Variants
1 paper
NM_001015877.2
p.H42insFs
c.124_125ins5
1 paper
NM_001015877.2
p.A41insFs
c.122_123insT
1 paper
NM_001015877.2
p.A41V
c.122C>T
1 paper
NM_001015877.2
p.H43delFs
c.127_128delCA
1 paper
NM_001015877.2
p.H43N
c.127C>A
3 papers
NM_001015877.2
p.H43insFs
c.127_128ins14
6 papers
NM_001015877.2
p.H43fs
c.127_128fs
4 papers
NM_001015877.2
p.A41fs
c.121_122fs
2 papers
NM_001015877.2
p.H43insFs
c.129dupT
3 papers
NM_001015877.2
p.H43insFs
c.128_129ins11
1 paper
NM_001015877.2
p.H43delins
c.128delinsGGTAGGAGGC
4 papers
NM_001015877.2
p.A40G
c.119C>G
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