Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.A204_R205delFs

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.A204_R205delFs
c.610_613del4
Surrounding Variants
1 paper
NM_001419.3
p.R205*
c.613C>T
2 papers
NM_001419.3
p.F207S
c.620T>C
1 paper
NM_001419.3
p.G208R
c.622G>C
1 paper
NM_001419.3
p.G208R
c.622G>A
1 paper
NM_001419.3
p.P203T
c.607C>A
4 papers
NM_001419.3
p.S202A
c.604T>G
1 paper
NM_001419.3
p.G209D
c.626G>A
1 paper
NM_001419.3
p.P210R
c.629C>G
2 papers
NM_001419.3
p.Y200D
c.598T>G
1 paper
NM_001419.3
p.L199L
c.595C>T
1 paper
NM_001419.3
p.Q198*
c.592C>T
1 paper
NM_001419.3
p.Q198K
c.592C>A
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