Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.S736*

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
1 paper
NM_173560.4
p.S736*
c.2207C>A
Surrounding Variants
1 paper
NM_173560.4
p.S736*
c.2207C>G
1 paper
NM_173560.4
p.S743N
c.2228G>A
5 papers
NM_173560.4
p.R726*
c.2176C>T
1 paper
NM_173560.4
p.G725D
c.2174G>A
1 paper
NM_173560.4
p.G725V
c.2174G>T
1 paper
NM_173560.4
p.E723V
c.2168A>T
1 paper
NM_173560.4
p.R752W
c.2254C>T
1 paper
NM_173560.4
p.P719delFs
c.2156delC
1 paper
NM_173560.4
p.G716E
c.2147G>A
1 paper
NM_173560.4
p.S715*
c.2144C>A
1 paper
NM_173560.4
p.S715*
c.2144C>G
1 paper
NM_173560.4
p.S766L
c.2297C>T
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