Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX3
Variant:p.Q31Q

RBFOX3

262 papers

RefSeq Summary

This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA reco...

Pfam Domains

RRM_1aa 101–169UCSCRNA recognition motif
Fox-1_Caa 208–297UCSCCalcitonin gene-related peptide regulator C terminal

Gene Aliases

HGNC Name

RNA binding fox-1 homolog 3

HGNC Alias Symbols

FOX-3; NeuN; HRNBP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001350451.2
p.Q31Q
c.93G>A
Surrounding Variants
1 paper
NM_001350451.2
p.P26_P29del4
c.76_86del12
1 paper
NM_001350451.2
p.P27Q
c.80C>A
1 paper
NM_001350451.2
p.P25H
c.74C>A
1 paper
NM_001350451.2
p.Y22insFs
c.65_66ins4
1 paper
NM_001350451.2
p.E42Q
c.124G>C
1 paper
NM_001350451.2
p.E21K
c.61G>A
1 paper
NM_001350451.2
p.H43L
c.128A>T
1 paper
NM_001350451.2
p.P13P
c.39G>C
1 paper
NM_001350451.2
p.P12_P13insFs
c.36_37insC
1 paper
NM_001350451.2
p.P12P
c.36T>C
1 paper
NM_001350451.2
p.Q9_Y10del2
c.25_29del6
1 paper
NM_001350451.2
p.Q9_Y10delFs
c.26_29del4
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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."