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.R324R

c.972T>C

Surrounding Variants

1 paper

NM_014921.5

p.L323L

c.969G>A

1 paper

NM_014921.5

p.V328A

c.983T>C

1 paper

NM_014921.5

p.D329D

c.987T>C

1 paper

NM_014921.5

p.D331G

c.992A>G

1 paper

NM_001008701.3

p.Y346C

c.1037A>G

1 paper

NM_014921.5

p.N348Y

c.1042A>T

1 paper

NM_014921.5

p.T300K

c.899C>A

1 paper

NM_014921.5

p.R349H

c.1046G>A

1 paper

NM_014921.5

p.Y361F

c.1082A>T

1 paper

NM_014921.5

p.N282delFs

c.846delG

1 paper

NM_014921.5

p.E279A

c.836A>C

1 paper

NM_014921.5

p.E279*

c.835G>T