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.R89*

c.265C>T

Surrounding Variants

1 paper

NM_001365308.1

p.R89P

c.266G>C

1 paper

NM_001365308.1

p.S88P

c.262T>C

1 paper

NM_001365308.1

p.L87P

c.260T>C

1 paper

NM_001365308.1

p.V86M

c.256G>A

1 paper

NM_001365308.1

p.A92V

c.275C>T

1 paper

NM_001365308.1

p.L93V

c.277C>G

4 papers

NM_001365308.1

p.C84F

c.251G>T

1 paper

NM_001365308.1

p.K83K

c.249G>A

1 paper

NM_001365308.1

p.R98_G99del1

c.294_296delGGG

1 paper

NM_001365308.1

p.G99del1

c.295_296delGGA

1 paper

NM_001365308.1

p.N74D

c.220A>G

5 papers

NM_001365308.1

p.Q104*

c.310C>T