Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB2
Variant:p.P287L

ADGRB2

137 papers

RefSeq Summary

This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature pep...

Pfam Domains

AGRB_Naa 38–230UCSCAdhesion GPCR B N-terminal region
TSP_1aa 313–361UCSCThrombospondin type 1 domain
TSP_1aa 368–416UCSCThrombospondin type 1 domain
TSP_1aa 423–471UCSCThrombospondin type 1 domain
TSP_1aa 479–527UCSCThrombospondin type 1 domain
GAINaa 596–706UCSCAGRL2-4 GAIN subdomain A

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor B2

HGNC Previous Symbol

BAI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001364857.2
p.P287L
c.860C>T
Surrounding Variants
1 paper
NM_001364857.2
p.P294L
c.881C>T
1 paper
NM_001364857.2
p.E299Q
c.895G>C
1 paper
NM_001364857.2
p.G308Splc
c.922+13C>T
1 paper
NM_001364857.2
p.P310L
c.929C>T
1 paper
NM_001364857.2
p.A311E
c.932C>A
1 paper
NM_001364857.2
p.V320L
c.958G>T
1 paper
NM_001364857.2
p.V320L
c.958G>C
1 paper
NM_001364857.2
p.Q330H
c.990G>T
1 paper
NM_001364857.2
p.Q330H
c.990G>C
1 paper
NM_001364857.2
p.S335delFs
c.1004delG
1 paper
NM_001364857.2
p.C336delFs
c.1006_1007delCA
1 paper
NM_001364857.2
p.P340H
c.1019C>A
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