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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP2

BMP2

396 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 42–267UCSCTGF-beta propeptide

TGF_betaaa 295–395UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 2

HGNC Previous Symbol

BMP2A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 310 variants

37 papers

chr20:6770235 T>G

NM_001200.4

p.S37A

c.109T>G

Exome: 2.1% (AC=30610, hom=507)Genome: 1.6% (AC=2470, hom=45)13 overlapping SVs

26 papers

chr20:6778468 A>T

NM_001200.4

p.R190S

c.570A>T

TGFb_propeptide

Exome: 63.5% (AC=928160, hom=297985)Genome: 72.3% (AC=109929, hom=41279)10 overlapping SVs

22 papers

chr20:6778468 A>C

NM_001200.4

p.R190S

c.570A>C

TGFb_propeptide

exact variant not in gnomAD10 overlapping SVs

8 papers

chr20:6778291 A>T

NM_001200.4

p.R131S

c.393A>T

TGFb_propeptide

Exome: 0.0% (AC=462, hom=1)Genome: 0.0% (AC=74, hom=1)10 overlapping SVs

7 papers

chr20:6778291 A>C

NM_001200.4

p.R131S

c.393A>C

TGFb_propeptide

exact variant not in gnomAD10 overlapping SVs

5 papers

chr20:6770442 G>A

NM_001200.4

p.A106T

c.316G>A

TGFb_propeptide

Exome: 0.0% (AC=140, hom=1)Genome: 0.0% (AC=7, hom=0)13 overlapping SVs

5 papers

chr20:6778359 G>A

NM_001200.4

p.R154Q

c.461G>A

TGFb_propeptide

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

4 papers

chr20:6778406 C>T

NM_001200.4

p.R170*

c.508C>T

TGFb_propeptide

exact variant not in gnomAD10 overlapping SVs

4 papers

chr20:6778846 T>TC

NM_001200.4

p.P317insFs

c.949dupC

TGF_beta

exact variant not in gnomAD10 overlapping SVs

4 papers

chr20:6778856 TAT>N

NM_001200.4

p.Y320fs

c.958_959fs

TGF_beta

exact variant not in gnomAD10 overlapping SVs

3 papers

chr20:6770387 A>G

NM_001200.4

p.S87S

c.261A>G

TGFb_propeptide

Exome: 63.7% (AC=931010, hom=299243)Genome: 70.5% (AC=107232, hom=38802)13 overlapping SVs

3 papers

chr20:6770391 C>G

NM_001200.4

p.Q89E

c.265C>G

TGFb_propeptide

Exome: n/aGenome: 0.0% (AC=2, hom=0)13 overlapping SVs

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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."