Varaico: Literature-Extracted Genetic Variants

BMPER

114 papers

RefSeq Summary

This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and B...

Pfam Domains

VWCaa 166–224UCSCvon Willebrand factor type C domain

VWCaa 301–357UCSCvon Willebrand factor type C domain

VWDaa 338–404UCSCvon Willebrand factor type D domain

VWDaa 364–514UCSCvon Willebrand factor type D domain

C8aa 559–625UCSCC8 domain

TILaa 629–682UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

BMP binding endothelial regulator

HGNC Alias Symbols

Cv2; CRIM3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365308.1

p.S479I

c.1436G>T

Surrounding Variants

1 paper

NM_001365308.1

p.D476N

c.1426G>A

1 paper

NM_001365308.1

p.W475L

c.1424G>T

2 papers

NM_001365308.1

p.S474F

c.1421C>T

1 paper

NM_001365308.1

p.A486V

c.1457C>T

1 paper

NM_001365308.1

p.K492*

c.1474A>T

1 paper

NM_001365308.1

p.G495delFs

c.1484delG

1 paper

NM_001365308.1

p.R505H

c.1514G>A

1 paper

NM_001365308.1

p.F515V

c.1543T>G

1 paper

NM_001365308.1

p.D518Y

c.1552G>T

1 paper

NM_001365308.1

p.W526*

c.1577G>A

1 paper

NM_001365308.1

p.W526*

c.1578G>A

1 paper

NM_001365308.1

p.V528M

c.1582G>A