Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB3
Variant:p.D148H

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.D148H
c.442G>C
Surrounding Variants
1 paper
NM_001704.3
p.D148Y
c.442G>T
1 paper
NM_001704.3
p.E147G
c.440A>G
1 paper
NM_001704.3
p.S151insFs
c.452_453insT
1 paper
NM_001704.3
p.F153fs
c.457_458fs
2 papers
NM_001704.3
p.E154Q
c.460G>C
1 paper
NM_001704.3
p.E154*
c.460G>T
1 paper
NM_001704.3
p.E154V
c.461A>T
1 paper
NM_001704.3
p.E154D
c.462G>C
1 paper
NM_001704.3
p.E154D
c.462G>T
1 paper
NM_001704.3
p.L156F
c.468G>C
1 paper
NM_001704.3
p.L156F
c.468G>T
1 paper
NM_001704.3
p.V157V
c.471A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."