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

2 papers

NM_001364857.2

p.V1052M

c.3154G>A

Surrounding Variants

1 paper

NM_001364857.2

p.A1047P

c.3139G>C

1 paper

NM_001364857.2

p.R1058Q

c.3173G>A

1 paper

NM_001364857.2

p.S1065F

c.3194C>T

1 paper

NM_001364857.2

p.R1035H

c.3104G>A

1 paper

NM_001364857.2

p.V1034I

c.3100G>A

2 papers

NM_001364857.2

p.R1028P

c.3083G>C

1 paper

NM_001364857.2

p.F1006_F1007del2

c.3016_3020del6

1 paper

NM_001364857.2

p.F1006_F1007del1

c.3018_3020delAAG

1 paper

NM_001364857.2

p.W1069C

c.3207G>T

1 paper

NM_001364857.2

p.W1069C

c.3207G>C

2 papers

NM_001364857.2

p.V1086I

c.3256G>A

1 paper

NM_001364857.2

p.G1095A

c.3284G>C