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.Y370C

c.1109A>G

Surrounding Variants

1 paper

NM_006129.5

p.Y370F

c.1109A>T

8 papers

NM_006129.5

p.R371H

c.1112G>A

1 paper

NM_006129.5

p.L367L

c.1101G>A

1 paper

NM_006129.5

p.D378N

c.1132G>A

1 paper

NM_006129.5

p.D378V

c.1133A>T

1 paper

NM_006129.5

p.V380L

c.1138G>C

4 papers

NM_006129.5

p.R383Q

c.1148G>A

1 paper

NM_006129.5

p.G394Splc

c.1180+5C>T

1 paper

NM_006129.5

p.R395C

c.1183C>T

1 paper

NM_006129.5

p.R395H

c.1184G>A

1 paper

NM_006129.5

p.V406F

c.1216G>T

1 paper

NM_006129.5

p.D409Y

c.1225G>T