Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.S217P

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
Selected Variant
12 papers
NM_173560.4
p.S217P
c.649T>C
Surrounding Variants
2 papers
NM_173560.4
p.S217F
c.650C>T
4 papers
NM_173560.4
p.E224_G225Splc
c.672+2T>G
1 paper
NM_173560.4
p.E224_G225Splc
c.672+31C>T
1 paper
NM_173560.4
p.G210_R215del0
c.630_644del15
1 paper
NM_173560.4
p.V207D
c.620T>A
1 paper
NM_173560.4
p.S200N
c.599G>A
1 paper
NM_173560.4
p.K198fs
c.592_593fs
1 paper
NM_173560.4
p.K198delFs
c.593_594delAA
1 paper
NM_173560.4
p.G194E
c.581G>A
1 paper
NM_173560.4
p.Y192*
c.576C>A
1 paper
NM_173560.4
p.Y192*
c.576C>G
1 paper
NM_173560.4
p.Y192_Y193Fs
c.576_578delinsGCATCAAAGAGATTGGCATFs
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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."