Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB1
Variant:p.Q505H

ADGRB1

157 papers

RefSeq Summary

Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential...

Pfam Domains

AGRB_Naa 41–220UCSCAdhesion GPCR B N-terminal region
TSP_1aa 265–314UCSCThrombospondin type 1 domain
TSP_1aa 358–406UCSCThrombospondin type 1 domain
TSP_1aa 413–461UCSCThrombospondin type 1 domain
TSP_1aa 471–519UCSCThrombospondin type 1 domain
TSP_1aa 526–574UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor B1

HGNC Previous Symbol

BAI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001702.3
p.Q505H
c.1515G>C
Surrounding Variants
1 paper
NM_001702.3
p.Q505H
c.1515G>T
1 paper
NM_001702.3
p.C504W
c.1512C>G
1 paper
NM_001702.3
p.A481S
c.1441G>T
1 paper
NM_001702.3
p.G448G
c.1344C>G
2 papers
NM_001702.3
p.N444S
c.1331A>G
1 paper
NM_001702.3
p.R434C
c.1300C>T
1 paper
NM_001702.3
p.R432C
c.1294C>T
1 paper
NM_001702.3
p.R427H
c.1280G>A
1 paper
NM_001702.3
p.P417S
c.1249C>T
1 paper
NM_001702.3
p.V521Splc
c.1562-4G>A
1 paper
NM_001702.3
p.C406C
c.1218C>T
1 paper
NM_001702.3
p.R398Q
c.1193G>A
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