Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.F245_L252del0

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.F245_L252del0
c.733_756del24
Surrounding Variants
2 papers
NM_001015877.2
p.L244F
c.732G>C
2 papers
NM_001015877.2
p.L244F
c.732G>T
1 paper
NM_001015877.2
p.F245Y
c.734T>A
1 paper
NM_001015877.2
p.F245S
c.734T>C
1 paper
NM_001015877.2
p.L244fs
c.730_731fs
1 paper
NM_001015877.2
p.L244delFs
c.731_732delTG
2 papers
NM_001015877.2
p.M243_L244Splc
c.730-1G>A
4 papers
NM_001015877.2
p.M243_L244Splc
c.730-2A>G
NM_032335.3
p.M244_L245Splc
c.733-2A>G
1 paper
NM_001015877.2
p.M243_L244Splc
c.730-2A>T
1 paper
NM_001015877.2
p.L244del1
c.730_731delTTG
2 papers
NM_001015877.2
p.S246fs
c.736_737fs
16 papers
NM_001015877.2
p.S246Y
c.737C>A
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