Varaico: Literature-Extracted Genetic Variants

Gene:RFX6

RFX6

169 papers

RefSeq Summary

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the different...

Pfam Domains

RFX_DNA_bindingaa 121–199UCSCRFX DNA-binding domain
BCD_RFXaa 264–543UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X6

HGNC Previous Symbol

RFXDC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 284 variants
14 papers
NM_173560.4
p.R181Q
c.542G>A
12 papers
NM_173560.4
p.S217P
c.649T>C
10 papers
NM_173560.4
p.R181W
c.541C>T
9 papers
NM_173560.4
p.R377*
c.1129C>T
7 papers
NM_173560.4
p.K260T
c.779A>C
7 papers
NM_173560.4
p.L292*
c.875T>G
7 papers
NM_173560.4
p.R652*
c.1954C>T
6 papers
NM_173560.4
p.W127Splc
c.380+2T>C
6 papers
NM_173560.4
p.L292*
c.875T>A
6 papers
NM_173560.4
p.K351*
c.1051A>T
5 papers
NM_173560.4
p.Q25*
c.73C>T
5 papers
NM_173560.4
p.E75Splc
c.224-12A>G
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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."