Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.E75Splc

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
5 papers
NM_173560.4
p.E75Splc
c.224-12A>G
Surrounding Variants
1 paper
NM_173560.4
p.L78*
c.233T>A
1 paper
NM_173560.4
p.L78*
c.233T>G
1 paper
NM_173560.4
p.G81D
c.242G>A
1 paper
NM_173560.4
p.N82K
c.246C>A
1 paper
NM_173560.4
p.N82K
c.246C>G
1 paper
NM_173560.4
p.D89E
c.267C>A
1 paper
NM_173560.4
p.D89E
c.267C>G
1 paper
NM_173560.4
p.D94N
c.280G>A
1 paper
NM_173560.4
p.S95fs
c.283_284fs
1 paper
NM_173560.4
p.S95delFs
c.285delC
1 paper
NM_173560.4
p.T97S
c.289A>T
1 paper
NM_173560.4
p.T97S
c.290C>G
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