Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C297R

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
2 papers
NM_001015877.2
p.C297R
c.889T>C
Surrounding Variants
2 papers
NM_001015877.2
p.C297S
c.889T>A
20 papers
NM_001015877.2
p.C297Y
c.890G>A
2 papers
NM_001015877.2
p.C297S
c.890G>C
4 papers
NM_001015877.2
p.C297F
c.890G>T
1 paper
NM_001015877.2
p.C297W
c.891T>G
1 paper
NM_001015877.2
p.V298fs
c.892_893fs
1 paper
NM_001015877.2
p.V298_T300delFs
c.893_899del7
1 paper
NM_001015877.2
p.K295ins9
c.883_884ins27
1 paper
NM_001015877.2
p.K299fs
c.895_896fs
3 papers
NM_001015877.2
p.K299_T300insS
c.895_899ins3
1 paper
NM_001015877.2
p.K295insFs
c.883_884insTT
1 paper
NM_001015877.2
p.I294M
c.882A>G
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