Varaico: Literature-Extracted Genetic Variants

Gene:RFX7

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
1–12 of 99 variants
2 papers
NM_022841.7
p.A710Fs
c.2128delinsAGFs
2 papers
NM_022841.7
p.P948H
c.2843C>A
2 papers
NM_022841.7
p.T953_T955del0
c.2859_2864del6
2 papers
NM_022841.7
p.S1011fs
c.3031_3032fs
2 papers
NM_022841.7
p.P1028L
c.3083C>T
2 papers
NM_022841.7
p.N1327S
c.3980A>G
1 paper
NM_022841.7
p.K50*
c.148A>T
1 paper
NM_022841.7
p.T56T
c.168T>C
1 paper
NM_022841.7
p.C63S
c.187T>A
1 paper
NM_022841.7
p.D94N
c.280G>A
1 paper
NM_022841.7
p.Q127Q
c.381G>A
1 paper
NM_022841.7
p.K155I
c.464A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."