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.C510W

c.1530T>G

Surrounding Variants

1 paper

NM_006129.5

p.P515A

c.1543C>G

2 papers

NM_006129.5

p.L505F

c.1513C>T

1 paper

NM_006129.5

p.L505_I506del2

c.1513_1517del6

1 paper

NM_006129.5

p.I518del1

c.1552_1553delATC

1 paper

NM_006129.5

p.K519E

c.1555A>G

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.S523T

c.1568G>C

2 papers

NM_006129.5

p.D497N

c.1489G>A

1 paper

NM_006129.5

p.L525_N536del12

c.1573_1607del36

1 paper

NM_006129.5

p.Y490*

c.1470C>A

1 paper

NM_006129.5

p.Y490*

c.1470C>G