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.V406F

c.1216G>T

Surrounding Variants

1 paper

NM_006129.5

p.D409Y

c.1225G>T

1 paper

NM_006129.5

p.S410I

c.1229G>T

1 paper

NM_006129.5

p.R411H

c.1232G>A

1 paper

NM_006129.5

p.L412F

c.1234C>T

6 papers

NM_006129.5

p.L412L

c.1236C>T

1 paper

NM_006129.5

p.R395H

c.1184G>A

1 paper

NM_006129.5

p.R395C

c.1183C>T

2 papers

NM_006129.5

p.S418delFs

c.1252delA

1 paper

NM_006129.5

p.S418fs

c.1252_1253fs

1 paper

NM_006129.5

p.G424A

c.1271G>C

2 papers

NM_006129.5

p.Y431*

c.1293C>A

4 papers

NM_006129.5

p.Y431*

c.1293C>G