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.G54A

c.161G>C

Surrounding Variants

1 paper

NM_001365308.1

p.T63I

c.188C>T

1 paper

NM_001365308.1

p.V71A

c.212T>C

1 paper

NM_001365308.1

p.G45Splc

c.133+6G>A

1 paper

NM_001365308.1

p.S18S

c.54G>A

1 paper

NM_001365308.1

p.A9_E12delins

c.26_35delinsAGACCAG

2 papers

NM_001365308.1

p.A9_E12Fs

c.26_35delinsAGACCAGAGCGGCGFs

3 papers

NM_001365308.1

p.A9fs

c.25_26fs

1 paper

NM_001365308.1

p.A9_E12delFs

c.26_35del10

1 paper

NM_001365308.1

p.M1insFs

c.2dupT