Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.P173L

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.P173L
c.518C>T
Surrounding Variants
1 paper
NM_001419.3
p.G174S
c.520G>A
1 paper
NM_001419.3
p.P172T
c.514C>A
1 paper
NM_001419.3
p.H170_K171insFs
c.508_511dup4
1 paper
NM_001419.3
p.V181delFs
c.542delA
1 paper
NM_001419.3
p.T165A
c.493A>G
3 papers
NM_001419.3
p.K182R
c.545A>G
1 paper
NM_001419.3
p.A163T
c.487G>A
1 paper
NM_001419.3
p.E162K
c.484G>A
1 paper
NM_001419.3
p.A185S
c.553G>T
1 paper
NM_001419.3
p.A185T
c.553G>A
1 paper
NM_001419.3
p.E161A
c.482A>C
1 paper
NM_001419.3
p.A160insFs
c.478_479insT
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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."