Varaico: Literature-Extracted Genetic Variants

Gene:LRRN2
Variant:p.L518V

LRRN2

69 papers

RefSeq Summary

The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other...

Pfam Domains

LRR_8aa 93–153UCSCLeucine rich repeat
LRR_8aa 213–273UCSCLeucine rich repeat
LRR_8aa 310–371UCSCLeucine rich repeat
I-setaa 427–514UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

leucine rich repeat neuronal 2

HGNC Previous Symbol

LRRN5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_201630.2
p.L518V
c.1552C>G
Surrounding Variants
1 paper
NM_201630.2
p.L519H
c.1556T>A
1 paper
NM_201630.2
p.E525K
c.1573G>A
1 paper
NM_201630.2
p.P549H
c.1646C>A
1 paper
NM_201630.2
p.R485Q
c.1454G>A
1 paper
NM_201630.2
p.T551I
c.1652C>T
2 papers
NM_201630.2
p.Y477C
c.1430A>G
1 paper
NM_201630.2
p.R472K
c.1415G>A
1 paper
NM_201630.2
p.A461fs
c.1381_1382fs
1 paper
NM_201630.2
p.R574H
c.1721G>A
1 paper
NM_201630.2
p.E450K
c.1348G>A
1 paper
NM_201630.2
p.T591T
c.1773G>A
1 paper
NM_201630.2
p.D603Y
c.1807G>T
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