Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.A108insFs

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.A108insFs
c.322_323insA
Surrounding Variants
1 paper
NM_001015877.2
p.A108fs
c.322_323fs
1 paper
NM_001015877.2
p.C107fs
c.319_320fs
1 paper
NM_001015877.2
p.C107_A108delFs
c.321_322delTG
3 papers
NM_001015877.2
p.H106fs
c.316_317fs
1 paper
NM_001015877.2
p.H110L
c.329A>T
1 paper
NM_001015877.2
p.Y105C
c.314A>G
2 papers
NM_001015877.2
p.D111fs
c.331_332fs
6 papers
NM_001015877.2
p.Y105fs
c.313_314fs
1 paper
NM_001015877.2
p.Y105_H106delFs
c.313_317del5
1 paper
NM_001015877.2
p.H104R
c.311A>G
1 paper
NM_001015877.2
p.H104L
c.311A>T
1 paper
NM_001015877.2
p.K112T
c.335A>C
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