Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB3
Variant:p.E272fs

ADGRB3

214 papers

RefSeq Summary

This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis pro...

Pfam Domains

AGRB_Naa 29–203UCSCAdhesion GPCR B N-terminal region
TSP_1aa 295–342UCSCThrombospondin type 1 domain
TSP_1aa 349–397UCSCThrombospondin type 1 domain
TSP_1aa 404–452UCSCThrombospondin type 1 domain
TSP_1aa 459–507UCSCThrombospondin type 1 domain
HRMaa 511–570UCSCHormone receptor domain

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor B3

HGNC Previous Symbol

BAI3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001704.3
p.E272fs
c.814_815fs
Surrounding Variants
1 paper
NM_001704.3
p.E272insFs
c.815dupA
1 paper
NM_001704.3
p.E272E
c.816A>G
1 paper
NM_001704.3
p.V270V
c.810T>C
1 paper
NM_001704.3
p.R268L
c.803G>T
1 paper
NM_001704.3
p.P276S
c.826C>T
2 papers
NM_001704.3
p.R266*
c.796C>T
1 paper
NM_001704.3
p.A280T
c.838G>A
2 papers
NM_001704.3
p.A280G
c.839C>G
1 paper
NM_001704.3
p.G290Splc
c.869-7C>T
1 paper
NM_001704.3
p.G290Splc
c.869-5C>T
1 paper
NM_001704.3
p.V294A
c.881T>C
1 paper
NM_001704.3
p.S301N
c.902G>A
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