Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL2
Variant:p.R150C

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
3 papers
NM_004432.5
p.R150C
c.448C>T
Surrounding Variants
1 paper
NM_004432.5
p.R150H
c.449G>A
1 paper
NM_004432.5
p.Q147H
c.441A>T
1 paper
NM_004432.5
p.Q147H
c.441A>C
1 paper
NM_004432.5
p.S146fs
c.436_437fs
1 paper
NM_004432.5
p.S146insFs
c.436_437insT
1 paper
NM_004432.5
p.R155H
c.464G>A
1 paper
NM_004432.5
p.I156V
c.466A>G
1 paper
NM_004432.5
p.T135S
c.403A>T
1 paper
NM_004432.5
p.R123I
c.368G>T
1 paper
NM_004432.5
p.G163D
c.488G>A
1 paper
NM_004432.5
p.R166K
c.497G>A
2 papers
NM_004432.5
p.R176Q
c.527G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."