Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.G307S

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
4 papers
NM_001419.3
p.G307S
c.919G>A
Surrounding Variants
2 papers
NM_001419.3
p.L305L
c.915G>C
1 paper
NM_001419.3
p.Y308F
c.923A>T
1 paper
NM_001419.3
p.R309H
c.926G>A
1 paper
NM_001419.3
p.L310Q
c.929T>A
1 paper
NM_001419.3
p.I302I
c.906A>T
2 papers
NM_001419.3
p.D312D
c.936C>T
1 paper
NM_001419.3
p.D312delFs
c.935delT
1 paper
NM_001419.3
p.K313E
c.937A>G
1 paper
NM_001419.3
p.A299V
c.896C>T
1 paper
NM_001419.3
p.Q316R
c.947A>G
1 paper
NM_001419.3
p.E297A
c.890A>C
1 paper
NM_001419.3
p.E296D
c.888A>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."