Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.T116S

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.T116S
c.346A>T
Surrounding Variants
6 papers
NM_001419.3
p.T118A
c.352A>G
2 papers
NM_001419.3
p.G112_L113delFs
c.336_337delGC
1 paper
NM_001419.3
p.Q119*
c.355C>T
1 paper
NM_001419.3
p.L113F
c.337C>T
1 paper
NM_001419.3
p.Q119L
c.356A>T
1 paper
NM_001419.3
p.K120K
c.360G>A
1 paper
NM_001419.3
p.K120del1
c.358_360delCTT
1 paper
NM_001419.3
p.I110I
c.330C>A
1 paper
NM_001419.3
p.I110L
c.328A>C
1 paper
NM_001419.3
p.Y109N
c.325T>A
1 paper
NM_001419.3
p.L108insFs
c.323_324ins10
1 paper
NM_001419.3
p.D124A
c.371A>C
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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."