Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.E341Q

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.E341Q
c.1021G>C
Surrounding Variants
1 paper
NM_001015877.2
p.E341G
c.1022A>G
40 papers
NM_001015877.2
p.R342*
c.1024C>T
2 papers
NM_001015877.2
p.E340K
c.1018G>A
1 paper
NM_001015877.2
p.R342Q
c.1025G>A
2 papers
NM_001015877.2
p.E338K
c.1012G>A
2 papers
NM_001015877.2
p.E337*
c.1009G>T
1 paper
NM_001015877.2
p.S346_R347del2
c.1036_1040del6
4 papers
NM_001015877.2
p.E338_D339del1
c.1014_1016delAGA
2 papers
NM_001015877.2
p.S346G
c.1036A>G
1 paper
NM_001015877.2
p.D336fs
c.1006_1007fs
1 paper
NM_001015877.2
p.D336delFs
c.1007_1008delAT
1 paper
NM_001015877.2
p.R335K
c.1004G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."