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.R1461*

c.4381C>T

Surrounding Variants

4 papers

NM_001364857.2

p.R1465W

c.4393C>T

1 paper

NM_001364857.2

p.E1472K

c.4414G>A

1 paper

NM_001364857.2

p.M1475V

c.4423A>G

1 paper

NM_001364857.2

p.H1481Y

c.4441C>T

1 paper

NM_001364857.2

p.E1483E

c.4449A>G

1 paper

NM_001364857.2

p.N1489I

c.4466A>T

1 paper

NM_001364857.2

p.F1492S

c.4475T>C

1 paper

NM_001364857.2

p.H1493Y

c.4477C>T

1 paper

NM_001364857.2

p.R1499C

c.4495C>T

1 paper

NM_001364857.2

p.K1505_R1506Splc

c.4515+10C>T

1 paper

NM_001364857.2

p.R1532C

c.4594C>T

1 paper

NM_001364857.2

p.P1576L

c.4727C>T