Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.L292*

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
7 papers
NM_173560.4
p.L292*
c.875T>G
Surrounding Variants
6 papers
NM_173560.4
p.L292*
c.875T>A
4 papers
NM_173560.4
p.H293delFs
c.878_879delAC
1 paper
NM_173560.4
p.H293fs
c.877_878fs
4 papers
NM_173560.4
p.H293fs
c.877_878fs
1 paper
NM_173560.4
p.H293L
c.878A>T
1 paper
NM_173560.4
p.L291*
c.872T>A
1 paper
NM_173560.4
p.L291*
c.872T>G
1 paper
NM_173560.4
p.H289insFs
c.867dupT
1 paper
NM_173560.4
p.H289fs
c.865_866fs
1 paper
NM_173560.4
p.H289delFs
c.866delA
1 paper
NM_173560.4
p.Q296K
c.886C>A
1 paper
NM_173560.4
p.M298fs
c.892_893fs
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