Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL2
Variant:p.G163D

ELAVL2

54 papers

RefSeq Summary

In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene...

Pfam Domains

RRM_1aa 41–111UCSCRNA recognition motif
RRM_1aa 127–195UCSCRNA recognition motif
RRM_1aa 278–348UCSCRNA recognition motif

Gene Aliases

HGNC Name

ELAV like RNA binding protein 2

HGNC Alias Symbols

HuB; HEL-N1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004432.5
p.G163D
c.488G>A
Surrounding Variants
1 paper
NM_004432.5
p.R166K
c.497G>A
2 papers
NM_004432.5
p.R176Q
c.527G>A
1 paper
NM_004432.5
p.R176R
c.528A>G
1 paper
NM_004432.5
p.I183M
c.549C>G
1 paper
NM_004432.5
p.G185D
c.554G>A
1 paper
NM_004432.5
p.P192H
c.575C>A
1 paper
NM_004432.5
p.P192P
c.576C>T
1 paper
NM_004432.5
p.G193R
c.577G>C
1 paper
NM_004432.5
p.G193S
c.577G>A
1 paper
NM_004432.5
p.T195M
c.584C>T
1 paper
NM_004432.5
p.P197T
c.589C>A
1 paper
NM_004432.5
p.Y226Y
c.678T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."