Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.S1011fs

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
2 papers
NM_022841.7
p.S1011fs
c.3031_3032fs
Surrounding Variants
1 paper
NM_022841.7
p.S1011delFs
c.3032delC
1 paper
NM_022841.7
p.P1015A
c.3043C>G
1 paper
NM_022841.7
p.P1015fs
c.3043_3044fs
1 paper
NM_022841.7
p.P1015delFs
c.3045delG
1 paper
NM_022841.7
p.S1016delFs
c.3046delT
1 paper
NM_022841.7
p.S1016fs
c.3046_3047fs
1 paper
NM_022841.7
p.T1000insFs
c.2998dupA
1 paper
NM_022841.7
p.T1000fs
c.2998_2999fs
1 paper
NM_022841.7
p.T1027fs
c.3079_3080fs
1 paper
NM_022841.7
p.T1027delFs
c.3080delG
1 paper
NM_022841.7
p.P1028S
c.3082C>T
2 papers
NM_022841.7
p.P1028L
c.3083C>T
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