Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.M278_K279Splc

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.M278_K279Splc
c.835-2A>C
Surrounding Variants
1 paper
NM_001015877.2
p.M278_K279Splc
c.835-2A>G
1 paper
NM_001015877.2
p.M278_K279Splc
c.835-1G>A
2 papers
NM_001015877.2
p.K279delFs
c.835delA
3 papers
NM_001015877.2
p.K279fs
c.835_836fs
1 paper
NM_001015877.2
p.K279E
c.835A>G
1 paper
NM_001015877.2
p.K279fs
c.835_836fs
1 paper
NM_001015877.2
p.C280R
c.838T>C
1 paper
NM_001015877.2
p.C280insFs
c.838_839insGG
3 papers
NM_001015877.2
p.C280fs
c.838_839fs
1 paper
NM_001015877.2
p.C280delFs
c.839delG
10 papers
NM_001015877.2
p.C280Y
c.839G>A
1 paper
NM_001015877.2
p.C280*
c.840T>A
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