Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.N294S

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.N294S
c.881A>G
Surrounding Variants
1 paper
NM_001419.3
p.T293del1
c.877_879delTGT
1 paper
NM_001419.3
p.E296Q
c.886G>C
2 papers
NM_001419.3
p.M292insFs
c.875_876insA
2 papers
NM_001419.3
p.E296A
c.887A>C
1 paper
NM_001419.3
p.E296D
c.888A>T
1 paper
NM_001419.3
p.E296D
c.888A>C
1 paper
NM_001419.3
p.E297A
c.890A>C
3 papers
NM_001419.3
p.V290A
c.869T>C
1 paper
NM_001419.3
p.V290L
c.868G>T
1 paper
NM_001419.3
p.F289S
c.866T>C
1 paper
NM_001419.3
p.A299V
c.896C>T
1 paper
NM_001419.3
p.I302I
c.906A>T
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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."