Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX3
Variant:p.R111G

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
3 papers
NM_001350451.2
p.R111G
c.331A>G
Surrounding Variants
1 paper
NM_001350451.2
p.N105N
c.315C>T
1 paper
NM_001350451.2
p.R116R
c.348G>C
1 paper
NM_001350451.2
p.N105D
c.313A>G
1 paper
NM_001350451.2
p.M118L
c.352A>T
1 paper
NM_001350451.2
p.M118L
c.352A>C
1 paper
NM_001350451.2
p.D91N
c.271G>A
1 paper
NM_001350451.2
p.H88N
c.262C>A
1 paper
NM_001350451.2
p.T76_D77insFs
c.228_229insA
1 paper
NM_001350451.2
p.I125delFs
c.373delT
1 paper
NM_001350451.2
p.E129*
c.385G>T
1 paper
NM_001350451.2
p.E129V
c.386A>T
1 paper
NM_001350451.2
p.R135W
c.403C>T
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