Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.D34D

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
2 papers
NM_001419.3
p.D34D
c.102T>C
Surrounding Variants
1 paper
NM_001419.3
p.E35K
c.103G>A
1 paper
NM_001419.3
p.E35A
c.104A>C
1 paper
NM_001419.3
p.E35D
c.105G>C
1 paper
NM_001419.3
p.R37_S38insA
c.109_113ins3
1 paper
NM_001419.3
p.R37R
c.109C>A
3 papers
NM_001419.3
p.M31I
c.93G>A
1 paper
NM_001419.3
p.R37R
c.111A>G
1 paper
NM_001419.3
p.M31R
c.92T>G
1 paper
NM_001419.3
p.S38C
c.112A>T
1 paper
NM_001419.3
p.L39R
c.116T>G
6 papers
NM_001419.3
p.F40I
c.118T>A
1 paper
NM_001419.3
p.P28P
c.84T>C
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