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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_006129.5

p.M1V

c.1A>G

1 paper

NM_006129.5

p.P2A

c.4C>G

3 papers

NM_006129.5

p.A5V

c.14C>T

1 paper

NM_006129.5

p.A5A

c.15C>G

1 paper

NM_006129.5

p.R6R

c.18C>A

1 paper

NM_006129.5

p.P8delFs

c.22_23delCC

1 paper

NM_006129.5

p.P8L

c.23C>T

18 papers

NM_006129.5

p.G12R

c.34G>A

19 papers

NM_006129.5

p.G12R

c.34G>C

4 papers

NM_006129.5

p.L13P

c.38T>C

1 paper

NM_006129.5

p.P17A

c.49C>G

1 paper

NM_006129.5

p.G20D

c.59G>A