Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX3

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
1–12 of 70 variants
6 papers
NM_001350451.2
p.Q31Q
c.93G>A
3 papers
NM_001350451.2
p.Y5H
c.13T>C
3 papers
NM_001350451.2
p.R111G
c.331A>G
2 papers
NM_001350451.2
p.Y5insFs
c.14dupA
2 papers
NM_001350451.2
p.A8P
c.22G>C
2 papers
NM_001350451.2
p.A8fs
c.22_23fs
2 papers
NM_001350451.2
p.Q9P
c.26A>C
2 papers
NM_001350451.2
p.A207V
c.620C>T
1 paper
NM_001350451.2
p.Q3Fs
c.7delinsTGGGTAGGGFs
1 paper
NM_001350451.2
p.Q3_P4delFs
c.9_10delGC
1 paper
NM_001350451.2
p.Y10S
c.29A>C
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."