Varaico: Literature-Extracted Genetic Variants

ADGRL1

84 papers

RefSeq Summary

This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human sp...

Pfam Domains

SUEL_Lectinaa 48–128UCSCD-galactoside/L-rhamnose binding SUEL lectin domain

OLFaa 135–399UCSCOlfactomedin-like domain

HRMaa 477–535UCSCHormone receptor domain

GAINaa 537–663UCSCAGRL2-4 GAIN subdomain A

GPSaa 800–844UCSCGPCR proteolysis site, GPS, motif

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor L1

HGNC Previous Symbol

LPHN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014921.5

p.R234delFs

c.700delG

Surrounding Variants

1 paper

NM_014921.5

p.L233L

c.697C>T

1 paper

NM_014921.5

p.K238K

c.714G>A

1 paper

NM_014921.5

p.S239S

c.717C>T

1 paper

NM_014921.5

p.I244I

c.732C>T

1 paper

NM_014921.5

p.A247S

c.739G>T

2 papers

NM_001008701.3

p.V223I

c.667G>A

NM_014921.5

p.V218I

c.652G>A

1 paper

NM_014921.5

p.D251A

c.752A>C

1 paper

NM_014921.5

p.T252A

c.754A>G

1 paper

NM_014921.5

p.S253fs

c.757_758fs

1 paper

NM_014921.5

p.G258S

c.772G>A

1 paper

NM_014921.5

p.T209delFs

c.626delG

1 paper

NM_014921.5

p.R205C

c.613C>T