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.R444P

c.1331G>C

Surrounding Variants

1 paper

NM_001365308.1

p.R444C

c.1330C>T

1 paper

NM_001365308.1

p.S443L

c.1328C>T

1 paper

NM_001365308.1

p.G442S

c.1324G>A

1 paper

NM_001365308.1

p.L447fs

c.1339_1340fs

1 paper

NM_001365308.1

p.R450C

c.1348C>T

1 paper

NM_001365308.1

p.T437T

c.1311C>A

1 paper

NM_001365308.1

p.S420S

c.1260G>A

1 paper

NM_001365308.1

p.S416S

c.1248G>A

1 paper

NM_001365308.1

p.R411Q

c.1232G>A

1 paper

NM_001365308.1

p.R410C

c.1228C>T

1 paper

NM_001365308.1

p.V389G

c.1166T>G

2 papers

NM_001365308.1

p.Q387R

c.1160A>G