Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX3
Variant:p.E129V

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
1 paper
NM_001350451.2
p.E129V
c.386A>T
Surrounding Variants
1 paper
NM_001350451.2
p.E129*
c.385G>T
1 paper
NM_001350451.2
p.I125delFs
c.373delT
1 paper
NM_001350451.2
p.R135W
c.403C>T
1 paper
NM_001350451.2
p.S137Y
c.410C>A
1 paper
NM_001350451.2
p.G139D
c.416G>A
1 paper
NM_001350451.2
p.S149A
c.445T>G
1 paper
NM_001350451.2
p.R153*
c.457C>T
1 paper
NM_001350451.2
p.R166W
c.496C>T
1 paper
NM_001350451.2
p.E169K
c.505G>A
1 paper
NM_001350451.2
p.R176*
c.526C>T
1 paper
NM_001350451.2
p.K181E
c.541A>G
1 paper
NM_001350451.2
p.T183M
c.548C>T
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