Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP7

BMP7

167 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 35–280UCSCTGF-beta propeptide

TGF_betaaa 329–430UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 7

HGNC Alias Symbol

OP-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 153 variants

6 papers

chr20:57183773 G>A

NM_001719.3

p.R303C

c.907C>T

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

6 papers

chr20:57175004 T>C

NM_001719.3

p.N321S

c.962A>G

Exome: 0.4% (AC=5330, hom=43)Genome: 0.3% (AC=523, hom=1)6 overlapping SVs

3 papers

chr20:57228247 A>G

NM_001719.3

p.L198P

c.593T>C

TGFb_propeptide

Exome: 0.0% (AC=324, hom=0)Genome: 0.0% (AC=5, hom=0)6 overlapping SVs

3 papers

chr20:57202483 G>A

NM_001719.3

p.T251M

c.752C>T

TGFb_propeptide

Exome: 0.0% (AC=623, hom=0)Genome: 0.0% (AC=50, hom=0)8 overlapping SVs

2 papers

chr20:57266059 A>G

NM_001719.3

p.F22L

c.64T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

2 papers

chr20:57266057 G>C

NM_001719.3

p.F22L

c.66C>G

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)6 overlapping SVs

2 papers

chr20:57266057 G>T

NM_001719.3

p.F22L

c.66C>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

2 papers

chr20:57265969 G>A

NM_001719.3

p.R52W

c.154C>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

2 papers

chr20:57265921 G>A

NM_001719.3

p.P68S

c.202C>T

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

2 papers

chr20:57265773 G>C

NM_001719.3

p.P117R

c.350C>G

TGFb_propeptide

exact variant not in gnomAD6 overlapping SVs

2 papers

chr20:57228392 G>A

NM_001719.3

p.R150C

c.448C>T

TGFb_propeptide

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

2 papers

chr20:57228326 CT>C

NM_001719.3

p.A171delFs

c.513delT

TGFb_propeptide

Exome: 0.0% (AC=4, hom=0)Genome: n/a6 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."