Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.S258*

RFX7

56 papers

RefSeq Summary

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009].

Pfam Domains

RFX5_Naa 43–100UCSCRFX5 N-terminal domain
RFX_DNA_bindingaa 105–183UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

regulatory factor X7

HGNC Previous Symbol

RFXDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022841.7
p.S258*
c.773C>A
Surrounding Variants
1 paper
NM_022841.7
p.S258*
c.773C>G
1 paper
NM_022841.7
p.G271R
c.811G>C
1 paper
NM_022841.7
p.M187V
c.559A>G
1 paper
NM_022841.7
p.V157V
c.471C>A
1 paper
NM_022841.7
p.K155I
c.464A>T
1 paper
NM_022841.7
p.G271R
c.811G>C
1 paper
NM_022841.7
p.G271R
c.811G>A
1 paper
NM_022841.7
p.M272I
c.816G>T
1 paper
NM_022841.7
p.M272I
c.816G>C
1 paper
NM_022841.7
p.M272I
c.816G>A
1 paper
NM_022841.7
p.R309Q
c.926G>A
1 paper
NM_022841.7
p.Q318_K319del1
c.953_955delTCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."