Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.K274Q

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.K274Q
c.820A>C
Surrounding Variants
1 paper
NM_001419.3
p.K274R
c.821A>G
1 paper
NM_001419.3
p.V270L
c.808G>C
1 paper
NM_001419.3
p.G268G
c.804T>C
1 paper
NM_001419.3
p.G268A
c.803G>C
2 papers
NM_001419.3
p.N280S
c.839A>G
1 paper
NM_001419.3
p.T281A
c.841A>G
1 paper
NM_001419.3
p.P266L
c.797C>T
2 papers
NM_001419.3
p.P266T
c.796C>A
1 paper
NM_001419.3
p.F264fs
c.790_791fs
1 paper
NM_001419.3
p.W261*
c.783G>A
1 paper
NM_001419.3
p.E257_L260insFs
c.770_780dup11
1 paper
NM_001419.3
p.I259I
c.777C>A
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