Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.K182R

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
3 papers
NM_001419.3
p.K182R
c.545A>G
Surrounding Variants
1 paper
NM_001419.3
p.V181delFs
c.542delA
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.P187P
c.561C>T
1 paper
NM_001419.3
p.G174S
c.520G>A
1 paper
NM_001419.3
p.P173L
c.518C>T
1 paper
NM_001419.3
p.S176_K191del16
c.526_572del48
1 paper
NM_001419.3
p.N192S
c.575A>G
1 paper
NM_001419.3
p.P172T
c.514C>A
1 paper
NM_001419.3
p.V193M
c.577G>A
1 paper
NM_001419.3
p.H170_K171insFs
c.508_511dup4
1 paper
NM_001419.3
p.A194insFs
c.580_581insT
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