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.T505M

c.1514C>T

Surrounding Variants

1 paper

NM_001364857.2

p.A504T

c.1510G>A

1 paper

NM_001364857.2

p.T507M

c.1520C>T

1 paper

NM_001364857.2

p.R500P

c.1499G>C

1 paper

NM_001364857.2

p.R500C

c.1498C>T

1 paper

NM_001364857.2

p.R497H

c.1490G>A

1 paper

NM_001364857.2

p.G516R

c.1546G>C

1 paper

NM_001364857.2

p.G516R

c.1546G>A

1 paper

NM_001364857.2

p.G494S

c.1480G>A

1 paper

NM_001364857.2

p.K525fs

c.1573_1574fs

1 paper

NM_001364857.2

p.A483T

c.1447G>A

1 paper

NM_001364857.2

p.E532K

c.1594G>A

1 paper

NM_001364857.2

p.E470V

c.1409A>T