Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C45delFs

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.C45delFs
c.134delG
Surrounding Variants
1 paper
NM_001015877.2
p.C45fs
c.133_134fs
3 papers
NM_001015877.2
p.C45fs
c.133_134fs
20 papers
NM_001015877.2
p.C45Y
c.134G>A
1 paper
NM_001015877.2
p.C45S
c.134G>C
7 papers
NM_001015877.2
p.M46fs
c.136_137fs
2 papers
NM_001015877.2
p.K44*
c.130A>T
4 papers
NM_001015877.2
p.K44fs
c.130_131fs
1 paper
NM_001015877.2
p.H43Q
c.129T>A
1 paper
NM_001015877.2
p.M46T
c.137T>C
1 paper
NM_001015877.2
p.H43Q
c.129T>G
1 paper
NM_001015877.2
p.K44insFs
c.131dupA
1 paper
NM_001015877.2
p.H43_K44insFs
c.129_130insGG
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