Varaico: Literature-Extracted Genetic Variants

Gene:ADGRL2
Variant:p.E1460A

ADGRL2

97 papers

RefSeq Summary

This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleave...

Pfam Domains

SUEL_Lectinaa 49–129UCSCD-galactoside/L-rhamnose binding SUEL lectin domain
OLFaa 131–395UCSCOlfactomedin-like domain
OLFaa 135–399UCSCOlfactomedin-like domain
HRMaa 466–524UCSCHormone receptor domain
GAINaa 530–656UCSCAGRL2-4 GAIN subdomain A
GPSaa 790–834UCSCGPCR proteolysis site, GPS, motif

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor L2

HGNC Previous Symbols

LPHH1; LPHN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366006.2
p.E1460A
c.4379A>C
Surrounding Variants
1 paper
NM_001366006.2
p.L1423F
c.4267C>T
1 paper
NM_001366006.2
p.D1390Y
c.4168G>T
1 paper
NM_001366006.2
p.A1369S
c.4105G>T
1 paper
NM_001366006.2
p.S1355F
c.4064C>T
1 paper
NM_001366006.2
p.R1341G
c.4021C>G
1 paper
NM_012302.5
p.L1262H
c.3785T>A
1 paper
NM_001366006.2
p.S1316P
c.3946T>C
1 paper
NM_001366006.2
p.A1315T
c.3943G>A
1 paper
NM_001366006.2
p.G1302R
c.3904G>A
2 papers
NM_001366006.2
p.N1252D
c.3754A>G
1 paper
NM_001366006.2
p.N1239D
c.3715A>G
1 paper
NM_001366006.2
p.A1213Splc
c.3637+260G>A
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