Varaico: Literature-Extracted Genetic Variants

ADGRL3

127 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 111–191UCSCD-galactoside/L-rhamnose binding SUEL lectin domain

OLFaa 198–462UCSCOlfactomedin-like domain

HRMaa 563–621UCSCHormone receptor domain

GAINaa 623–749UCSCAGRL2-4 GAIN subdomain A

7tm_2aa 861–1097UCSC7 transmembrane receptor (Secretin family)

GPSaa 884–928UCSCGPCR proteolysis site, GPS, motif

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor L3

HGNC Previous Symbol

LPHN3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001387552.1

p.R580L

c.1739G>T

Surrounding Variants

1 paper

NM_001387552.1

p.W576R

c.1726T>A

1 paper

NM_001387552.1

p.W576R

c.1726T>C

1 paper

NM_001387552.1

p.C589S

c.1765T>A

1 paper

NM_001387552.1

p.C589S

c.1766G>C

1 paper

NM_001387552.1

p.A571fs

c.1711_1712fs

1 paper

NM_001387552.1

p.A571delFs

c.1711delG

1 paper

NM_001387552.1

p.C566Y

c.1697G>A

1 paper

NM_001387552.1

p.I559V

c.1675A>G

1 paper

NM_001387552.1

p.Q558*

c.1672C>T

1 paper

NM_001387552.1

p.V544I

c.1630G>A

1 paper

NM_001387552.1

p.P538T

c.1612C>A

2 papers

NM_001387552.1

p.R533Q

c.1598G>A

NM_015236.7

p.R465Q

c.1394G>A