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

1–12 of 130 variants

6 papers

NM_001365308.1

p.P370L

c.1109C>T

5 papers

NM_001365308.1

p.Q104*

c.310C>T

5 papers

NM_001365308.1

p.V137D

c.410T>A

4 papers

NM_001365308.1

p.C84F

c.251G>T

4 papers

NM_001365308.1

p.Q172*

c.514C>T

4 papers

NM_001365308.1

p.Q309*

c.925C>T

4 papers

NM_001365308.1

p.K360Splc

c.1078+5G>A

4 papers

NM_001365308.1

p.C546*

c.1638T>A

4 papers

NM_001365308.1

p.R555W

c.1663C>T

3 papers

NM_001365308.1

p.A9fs

c.25_26fs

3 papers

NM_001365308.1

p.C105Y

c.314G>A

3 papers

NM_001365308.1

p.C108R

c.322T>C