Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.S100A

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
5 papers
NM_001419.3
p.S100A
c.298T>G
Surrounding Variants
1 paper
NM_001419.3
p.S99S
c.297C>T
1 paper
NM_001419.3
p.P98S
c.292C>T
1 paper
NM_001419.3
p.V102G
c.305T>G
1 paper
NM_001419.3
p.R97H
c.290G>A
2 papers
NM_001419.3
p.D105G
c.314A>G
2 papers
NM_001419.3
p.S94W
c.281C>G
1 paper
NM_001419.3
p.S94*
c.281C>A
1 paper
NM_001419.3
p.A106A
c.318C>T
1 paper
NM_001419.3
p.K92_V93Splc
c.277-1G>A
1 paper
NM_001419.3
p.L108insFs
c.323_324ins10
1 paper
NM_001419.3
p.Y109N
c.325T>A
1 paper
NM_001419.3
p.I110L
c.328A>C
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