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

4 papers

NM_001365308.1

p.R555W

c.1663C>T

Surrounding Variants

1 paper

NM_001365308.1

p.R555Q

c.1664G>A

3 papers

NM_001365308.1

p.R558*

c.1672C>T

4 papers

NM_001365308.1

p.C546*

c.1638T>A

1 paper

NM_001365308.1

p.W566*

c.1697G>A

1 paper

NM_001365308.1

p.W566*

c.1698G>A

1 paper

NM_001365308.1

p.F568C

c.1703T>G

1 paper

NM_001365308.1

p.T570P

c.1708A>C

1 paper

NM_001365308.1

p.R536K

c.1607G>A

1 paper

NM_001365308.1

p.D576N

c.1726G>A

1 paper

NM_001365308.1

p.F533L

c.1599C>A

1 paper

NM_001365308.1

p.F533L

c.1599C>G

1 paper

NM_001365308.1

p.F533L

c.1597T>C