Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_001364857.2

p.P559Q

c.1676C>A

Surrounding Variants

1 paper

NM_001364857.2

p.P559fs

c.1675_1676fs

1 paper

NM_001364857.2

p.G550G

c.1650C>T

2 papers

NM_001364857.2

p.A549G

c.1646C>G

2 papers

NM_001364857.2

p.A548V

c.1643C>T

1 paper

NM_001364857.2

p.E532K

c.1594G>A

1 paper

NM_001364857.2

p.S566R

c.1696A>C

1 paper

NM_001364857.2

p.S566R

c.1698C>G

1 paper

NM_001364857.2

p.S566R

c.1698C>A

1 paper

NM_001364857.2

p.R568C

c.1702C>T

1 paper

NM_001364857.2

p.K525fs

c.1573_1574fs

1 paper

NM_001364857.2

p.G516R

c.1546G>C

1 paper

NM_001364857.2

p.G516R

c.1546G>A