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

17 papers

NM_006129.5

p.F249L

c.745T>C

Surrounding Variants

17 papers

NM_006129.5

p.F249L

c.747C>A

18 papers

NM_006129.5

p.F249L

c.747C>G

1 paper

NM_006129.5

p.N248_F249del0

c.742_747del6

1 paper

NM_006129.5

p.E253G

c.758A>G

1 paper

NM_006129.5

p.E253_P254ins1

c.759_760insAAT

1 paper

NM_006129.5

p.E256K

c.766G>A

1 paper

NM_006129.5

p.V257A

c.770T>C

1 paper

NM_006129.5

p.D265A

c.794A>C

3 papers

NM_006129.5

p.F266delFs

c.796_797delTT

3 papers

NM_006129.5

p.F266fs

c.796_797fs

6 papers

NM_006129.5

p.M270V

c.808A>G

1 paper

NM_006129.5

p.A273V

c.818C>T