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

1–12 of 331 variants

19 papers

NM_006129.5

p.G12R

c.34G>C

18 papers

NM_006129.5

p.G12R

c.34G>A

18 papers

NM_006129.5

p.F249L

c.747C>G

17 papers

NM_006129.5

p.F249L

c.745T>C

17 papers

NM_006129.5

p.F249L

c.747C>A

10 papers

NM_006129.5

p.E172D

c.516G>C

10 papers

NM_006129.5

p.E172D

c.516G>T

8 papers

NM_006129.5

p.R371H

c.1112G>A

8 papers

NM_006129.5

p.G498R

c.1492G>A

8 papers

NM_006129.5

p.G498R

c.1492G>C

6 papers

NM_006129.5

p.M270V

c.808A>G

6 papers

NM_006129.5

p.L412L

c.1236C>T