Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.R181Q

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
14 papers
NM_173560.4
p.R181Q
c.542G>A
Surrounding Variants
10 papers
NM_173560.4
p.R181W
c.541C>T
1 paper
NM_173560.4
p.P175S
c.523C>T
1 paper
NM_173560.4
p.K189Splc
c.566+5G>A
1 paper
NM_173560.4
p.K168_T169Splc
c.505-2A>G
1 paper
NM_173560.4
p.L150F
c.450A>C
1 paper
NM_173560.4
p.L150F
c.450A>T
1 paper
NM_173560.4
p.H148R
c.443A>G
1 paper
NM_173560.4
p.A147T
c.439G>A
1 paper
NM_173560.4
p.Y146*
c.438T>A
1 paper
NM_173560.4
p.Y146*
c.438T>G
1 paper
NM_173560.4
p.C143Y
c.428G>A
1 paper
NM_173560.4
p.P141delFs
c.423delA
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