Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.R385*

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
4 papers
NM_173560.4
p.R385*
c.1153C>T
Surrounding Variants
2 papers
NM_173560.4
p.R385Q
c.1154G>A
1 paper
NM_173560.4
p.V380insFs
c.1139dupT
9 papers
NM_173560.4
p.R377*
c.1129C>T
1 paper
NM_173560.4
p.D370fs
c.1108_1109fs
1 paper
NM_173560.4
p.L368fs
c.1102_1103fs
1 paper
NM_173560.4
p.L368_T369delFs
c.1102_1105del4
1 paper
NM_173560.4
p.L364_P365insG
c.1090_1094ins3
1 paper
NM_173560.4
p.V358I
c.1072G>A
1 paper
NM_173560.4
p.V357F
c.1069G>T
1 paper
NM_173560.4
p.E354*
c.1060G>T
1 paper
NM_173560.4
p.W353*
c.1059G>A
1 paper
NM_173560.4
p.W353*
c.1058G>A
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