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.T135T

c.405C>G

Surrounding Variants

1 paper

NM_001420.4

p.I156V

c.466A>G

1 paper

NM_001420.4

p.I156T

c.467T>C

1 paper

NM_001420.4

p.E180K

c.538G>A

2 papers

NM_001420.4

p.L186P

c.557T>C

1 paper

NM_001420.4

p.K184_Q189del6

c.550_566del18

1 paper

NM_001420.4

p.F202F

c.606C>T

1 paper

NM_001420.4

p.S207N

c.620G>A

1 paper

NM_001420.4

p.K209R

c.626A>G

1 paper

NM_001420.4

p.T210M

c.629C>T

1 paper

NM_001420.4

p.R225H

c.674G>A

1 paper

NM_001420.4

p.R236H

c.707G>A

1 paper

NM_001420.4

p.R238W

c.712C>T