Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL2
Variant:p.N22T

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.N22T
c.65A>C
Surrounding Variants
1 paper
NM_004432.5
p.P18_T19del1
c.54_56delGTT
1 paper
NM_004432.5
p.S26L
c.77C>T
1 paper
NM_004432.5
p.S26S
c.78G>A
1 paper
NM_004432.5
p.A15_N16delFs
c.43_46del4
1 paper
NM_004432.5
p.T14I
c.41C>T
1 paper
NM_004432.5
p.S6F
c.17C>T
1 paper
NM_004432.5
p.T3I
c.8C>T
1 paper
NM_004432.5
p.M1K
c.2T>A
1 paper
NM_004432.5
p.L46R
c.137T>G
1 paper
NM_004432.5
p.M50I
c.150G>T
1 paper
NM_004432.5
p.M50I
c.150G>C
1 paper
NM_004432.5
p.M50I
c.150G>A
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