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.D37G

c.110A>G

Surrounding Variants

1 paper

NM_006129.5

p.D36_P40del0

c.107_118del12

2 papers

NM_006129.5

p.P40L

c.119C>T

1 paper

NM_006129.5

p.L32L

c.96G>A

2 papers

NM_006129.5

p.D45H

c.133G>C

1 paper

NM_006129.5

p.C47*

c.141C>A

1 paper

NM_006129.5

p.D27H

c.79G>C

1 paper

NM_006129.5

p.D27Y

c.79G>T

2 papers

NM_006129.5

p.K48R

c.143A>G

1 paper

NM_006129.5

p.A26T

c.76G>A

1 paper

NM_006129.5

p.A26insFs

c.77dupC

3 papers

NM_006129.5

p.A50Splc

c.148+1G>A

1 paper

NM_006129.5

p.P22Q

c.65C>A