Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.R342Q

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.R342Q
c.1025G>A
Surrounding Variants
40 papers
NM_001015877.2
p.R342*
c.1024C>T
1 paper
NM_001015877.2
p.E341G
c.1022A>G
1 paper
NM_001015877.2
p.E341Q
c.1021G>C
2 papers
NM_001015877.2
p.E340K
c.1018G>A
1 paper
NM_001015877.2
p.S346_R347del2
c.1036_1040del6
2 papers
NM_001015877.2
p.S346G
c.1036A>G
2 papers
NM_001015877.2
p.E338K
c.1012G>A
5 papers
NM_001015877.2
p.R347*
c.1039C>T
2 papers
NM_001015877.2
p.E337*
c.1009G>T
1 paper
NM_001015877.2
p.G348*
c.1042G>T
4 papers
NM_001015877.2
p.E338_D339del1
c.1014_1016delAGA
1 paper
NM_001015877.2
p.D336fs
c.1006_1007fs
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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."