Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Q251H

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.Q251H
c.753G>C
Surrounding Variants
2 papers
NM_001015877.2
p.Q251H
c.753G>T
1 paper
NM_001015877.2
p.Q251R
c.752A>G
1 paper
NM_001015877.2
p.Q251L
c.752A>T
1 paper
NM_001015877.2
p.Q251K
c.751C>A
3 papers
NM_001015877.2
p.T255del1
c.763_764delACA
1 paper
NM_001015877.2
p.T253K
c.758C>A
3 papers
NM_001015877.2
p.T249K
c.746C>A
1 paper
NM_001015877.2
p.T249_V250del1
c.746_748delCAG
2 papers
NM_001015877.2
p.T254K
c.761C>A
5 papers
NM_001015877.2
p.G248D
c.743G>A
2 papers
NM_001015877.2
p.G248V
c.743G>T
1 paper
NM_001015877.2
p.G248fs
c.742_743fs
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