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

2 papers

NM_006129.5

p.R169C

c.505C>T

Surrounding Variants

3 papers

NM_006129.5

p.R169insFs

c.506dupG

3 papers

NM_006129.5

p.R169H

c.506G>A

1 paper

NM_006129.5

p.R169delFs

c.505_506delCG

1 paper

NM_006129.5

p.L167L

c.501G>C

1 paper

NM_006129.5

p.E172Q

c.514G>C

1 paper

NM_006129.5

p.E172*

c.514G>T

10 papers

NM_006129.5

p.E172D

c.516G>C

10 papers

NM_006129.5

p.E172D

c.516G>T

1 paper

NM_006129.5

p.C163Y

c.488G>A

1 paper

NM_006129.5

p.Y175_T179del0

c.525_536del12

1 paper

NM_006129.5

p.H161Q

c.483C>A

1 paper

NM_006129.5

p.V177L

c.529G>T