Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.D336fs

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.D336fs
c.1006_1007fs
Surrounding Variants
1 paper
NM_001015877.2
p.D336delFs
c.1007_1008delAT
1 paper
NM_001015877.2
p.R335K
c.1004G>A
4 papers
NM_001015877.2
p.E338_D339del1
c.1014_1016delAGA
4 papers
NM_001015877.2
p.R335fs
c.1003_1004fs
2 papers
NM_001015877.2
p.R335fs
c.1003_1004fs
2 papers
NM_001015877.2
p.E337*
c.1009G>T
1 paper
NM_001015877.2
p.R335Fs
c.1003delinsGAFs
2 papers
NM_001015877.2
p.E338K
c.1012G>A
1 paper
NM_001015877.2
p.E334Q
c.1000G>C
1 paper
NM_001015877.2
p.E334fs
c.1000_1001fs
1 paper
NM_001015877.2
p.E334_R335delFs
c.1000_1003del4
1 paper
NM_001015877.2
p.D333V
c.998A>T
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