Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB3
Variant:p.V219L

ADGRB3

214 papers

RefSeq Summary

This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis pro...

Pfam Domains

AGRB_Naa 29–203UCSCAdhesion GPCR B N-terminal region
TSP_1aa 295–342UCSCThrombospondin type 1 domain
TSP_1aa 349–397UCSCThrombospondin type 1 domain
TSP_1aa 404–452UCSCThrombospondin type 1 domain
TSP_1aa 459–507UCSCThrombospondin type 1 domain
HRMaa 511–570UCSCHormone receptor domain

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor B3

HGNC Previous Symbol

BAI3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001704.3
p.V219L
c.655G>T
Surrounding Variants
1 paper
NM_001704.3
p.V219L
c.655G>C
1 paper
NM_001704.3
p.P221P
c.663C>A
1 paper
NM_001704.3
p.T226R
c.677C>G
1 paper
NM_001704.3
p.E227V
c.680A>T
1 paper
NM_001704.3
p.C229F
c.686G>T
5 papers
NM_001704.3
p.D208N
c.622G>A
1 paper
NM_001704.3
p.G206V
c.617G>T
1 paper
NM_001704.3
p.W205R
c.613T>A
1 paper
NM_001704.3
p.W205R
c.613T>C
2 papers
NM_001704.3
p.G203*
c.607G>T
1 paper
NM_001704.3
p.P199T
c.595C>A
1 paper
NM_001704.3
p.R244K
c.731G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."