Varaico: Literature-Extracted Genetic Variants

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.S435R

c.1305C>A

Surrounding Variants

1 paper

NM_001366006.2

p.S429L

c.1286C>T

1 paper

NM_001366006.2

p.G447E

c.1340G>A

1 paper

NM_001366006.2

p.T410R

c.1229C>G

1 paper

NM_012302.5

p.D517N

c.1549G>A

1 paper

NM_001366006.2

p.S527L

c.1580C>T

1 paper

NM_001366006.2

p.H528P

c.1583A>C

1 paper

NM_001366006.2

p.Q532H

c.1596G>T

1 paper

NM_001366006.2

p.A547fs

c.1639_1640fs

1 paper

NM_001366006.2

p.K598_L599Splc

c.1795-13T>C

2 papers

NM_001366006.2

p.C606C

c.1818C>T

1 paper

NM_001366006.2

p.D615N

c.1843G>A

1 paper

NM_001366006.2

p.N619N

c.1857C>T