Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.K234fs

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.K234fs
c.700_701fs
Surrounding Variants
12 papers
NM_001015877.2
p.K234E
c.700A>G
1 paper
NM_001015877.2
p.K235E
c.703A>G
4 papers
NM_001015877.2
p.K235*
c.703A>T
1 paper
NM_032335.3
p.A234T
c.700G>A
1 paper
NM_001015877.2
p.F231_N232insFs
c.693_694ins10
1 paper
NM_001015877.2
p.A237insFs
c.710dupC
1 paper
NM_001015877.2
p.A237fs
c.709_710fs
1 paper
NM_001015877.2
p.A237fs
c.709_710fs
1 paper
NM_001015877.2
p.F231fs
c.691_692fs
2 papers
NM_001015877.2
p.A237D
c.710C>A
1 paper
NM_001015877.2
p.A237insFs
c.711dupT
1 paper
NM_001015877.2
p.A237_A238insFs
c.711_712insTC
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