Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.N768D

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.N768D
c.2302A>G
Surrounding Variants
1 paper
NM_173560.4
p.N768fs
c.2302_2303fs
1 paper
NM_173560.4
p.N768delFs
c.2303delA
1 paper
NM_173560.4
p.S766L
c.2297C>T
1 paper
NM_173560.4
p.T774delFs
c.2320_2321delAC
1 paper
NM_173560.4
p.T774fs
c.2320_2321fs
1 paper
NM_173560.4
p.R752W
c.2254C>T
1 paper
NM_173560.4
p.G784insFs
c.2350_2351ins7
1 paper
NM_173560.4
p.G784fs
c.2350_2351fs
1 paper
NM_173560.4
p.S743N
c.2228G>A
1 paper
NM_173560.4
p.S797L
c.2390C>T
1 paper
NM_173560.4
p.N799D
c.2395A>G
1 paper
NM_173560.4
p.S736*
c.2207C>A
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