Varaico: Literature-Extracted Genetic Variants

ELAVL3

86 papers

RefSeq Summary

A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antige...

Pfam Domains

RRM_1aa 41–111UCSCRNA recognition motif

RRM_1aa 127–195UCSCRNA recognition motif

RRM_1aa 286–356UCSCRNA recognition motif

Gene Aliases

HGNC Name

ELAV like RNA binding protein 3

HGNC Alias Symbols

HUC; PLE21; DKFZp547J036; HUCL; MGC20653

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001420.4

p.A33G

c.98C>G

Surrounding Variants

2 papers

NM_001420.4

p.P47S

c.139C>T

1 paper

NM_001420.4

p.P47_Q48insG

c.139_143ins3

2 papers

NM_001420.4

p.A18fs

c.52_53fs

1 paper

NM_001420.4

p.P17fs

c.49_50fs

1 paper

NM_001420.4

p.N49I

c.146A>T

1 paper

NM_001420.4

p.G16insFs

c.47_48insG

3 papers

NM_001420.4

p.G16fs

c.46_47fs

5 papers

NM_001420.4

p.G16delFs

c.47delC

1 paper

NM_001420.4

p.M50T

c.149T>C

2 papers

NM_001420.4

p.G16fs

c.46_47fs

1 paper

NM_001420.4

p.G15V

c.44G>T

1 paper

NM_001420.4

p.Q12*

c.34C>T