Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.I17V

ELAVL1

491 papers

RefSeq Summary

The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untra...

Pfam Domains

RRM_1aa 22–92UCSCRNA recognition motif
RRM_1aa 108–176UCSCRNA recognition motif
RRM_1aa 246–316UCSCRNA recognition motif

Gene Aliases

HGNC Name

ELAV like RNA binding protein 1

HGNC Previous Symbol

HUR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001419.3
p.I17V
c.49A>G
Surrounding Variants
1 paper
NM_001419.3
p.D16delFs
c.47delT
1 paper
NM_001419.3
p.G15G
c.45T>G
1 paper
NM_001419.3
p.G15A
c.44G>C
1 paper
NM_001419.3
p.G15D
c.44G>A
1 paper
NM_001419.3
p.G15S
c.43G>A
1 paper
NM_001419.3
p.R19S
c.57A>T
1 paper
NM_001419.3
p.T20K
c.59C>A
1 paper
NM_001419.3
p.R19delFs
c.57delT
1 paper
NM_001419.3
p.C13Y
c.38G>A
1 paper
NM_001419.3
p.C13insFs
c.37_38insA
1 paper
NM_001419.3
p.C13R
c.37T>C
1 paper
NM_001419.3
p.N21insFs
c.61_62insCT
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