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

3 papers

NM_001365308.1

p.W314*

c.942G>A

Surrounding Variants

3 papers

NM_001365308.1

p.W314*

c.941G>A

1 paper

NM_001365308.1

p.G311A

c.932G>C

1 paper

NM_001365308.1

p.N318I

c.953A>T

1 paper

NM_001365308.1

p.C319F

c.956G>T

1 paper

NM_001365308.1

p.I337F

c.1009A>T

2 papers

NM_001365308.1

p.Q344_G345Splc

c.1032+5G>A

4 papers

NM_001365308.1

p.Q309*

c.925C>T

1 paper

NM_001365308.1

p.G304D

c.911G>A

1 paper

NM_001365308.1

p.G304delFs

c.911delG

1 paper

NM_001365308.1

p.L290_P294delFs

c.869_881del13

4 papers

NM_001365308.1

p.K360Splc

c.1078+5G>A

1 paper

NM_001365308.1

p.D254G

c.761A>G