Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.N1362S

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.N1362S
c.4085A>G
Surrounding Variants
1 paper
NM_022841.7
p.V1366E
c.4097T>A
1 paper
NM_022841.7
p.S1358N
c.4073G>A
1 paper
NM_022841.7
p.E1389D
c.4167G>T
1 paper
NM_022841.7
p.E1389D
c.4167G>C
2 papers
NM_022841.7
p.N1327S
c.3980A>G
1 paper
NM_022841.7
p.G1324D
c.3971G>A
1 paper
NM_022841.7
p.T1399_L1400del2
c.4195_4199del6
1 paper
NM_022841.7
p.Q1299*
c.3895C>T
1 paper
NM_022841.7
p.P1298S
c.3892C>T
1 paper
NM_022841.7
p.T1291P
c.3871A>C
1 paper
NM_022841.7
p.M1440V
c.4318A>G
1 paper
NM_022841.7
p.H1453R
c.4358A>G
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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."