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.R536K

c.1607G>A

Surrounding Variants

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

2 papers

NM_001365308.1

p.N531S

c.1592A>G

1 paper

NM_001365308.1

p.V528M

c.1582G>A

1 paper

NM_001365308.1

p.W526*

c.1578G>A

1 paper

NM_001365308.1

p.W526*

c.1577G>A

4 papers

NM_001365308.1

p.C546*

c.1638T>A

1 paper

NM_001365308.1

p.D518Y

c.1552G>T

4 papers

NM_001365308.1

p.R555W

c.1663C>T

1 paper

NM_001365308.1

p.R555Q

c.1664G>A

1 paper

NM_001365308.1

p.F515V

c.1543T>G