Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.W353*

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.W353*
c.1058G>A
Surrounding Variants
1 paper
NM_173560.4
p.W353*
c.1059G>A
1 paper
NM_173560.4
p.E354*
c.1060G>T
6 papers
NM_173560.4
p.K351*
c.1051A>T
1 paper
NM_173560.4
p.A350V
c.1049C>T
1 paper
NM_173560.4
p.V357F
c.1069G>T
1 paper
NM_173560.4
p.F349fs
c.1045_1046fs
1 paper
NM_173560.4
p.V358I
c.1072G>A
1 paper
NM_173560.4
p.F349_W353delFs
c.1047_1057del11
1 paper
NM_173560.4
p.F349delFs
c.1047delT
1 paper
NM_173560.4
p.R347K
c.1040G>A
1 paper
NM_173560.4
p.R347fs
c.1039_1040fs
1 paper
NM_173560.4
p.R347fs
c.1039_1040fs
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