Varaico: Literature-Extracted Genetic Variants

BMP1

462 papers

RefSeq Summary

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein ...

Pfam Domains

Astacinaa 122–318UCSCAstacin (Peptidase family M12A)

CUBaa 322–431UCSCCUB domain

CUBaa 435–544UCSCCUB domain

FXa_inhibitionaa 551–587UCSCCoagulation Factor Xa inhibitory site

CUBaa 591–700UCSCCUB domain

EGF_CAaa 703–742UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

bone morphogenetic protein 1

HGNC Previous Symbol

PCOLC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006129.5

p.Y490delFs

c.1470delC

Surrounding Variants

1 paper

NM_006129.5

p.Y490*

c.1470C>A

1 paper

NM_006129.5

p.Y490*

c.1470C>G

1 paper

NM_006129.5

p.C488S

c.1463G>C

1 paper

NM_006129.5

p.D486fs

c.1456_1457fs

1 paper

NM_006129.5

p.H485insFs

c.1455dupC

2 papers

NM_006129.5

p.D497N

c.1489G>A

2 papers

NM_006129.5

p.E483K

c.1447G>A

8 papers

NM_006129.5

p.G498R

c.1492G>A

8 papers

NM_006129.5

p.G498R

c.1492G>C

1 paper

NM_006129.5

p.L505_I506del2

c.1513_1517del6

2 papers

NM_006129.5

p.L505F

c.1513C>T

1 paper

NM_006129.5

p.C510W

c.1530T>G