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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP8A

BMP8A

40 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 28–251UCSCTGF-beta propeptide

TGF_betaaa 300–401UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 8a

HGNC Alias Symbols

OP-2; Op2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

7 papers

chr1:39492241 A>G

NM_181809.4

p.M84V

c.250A>G

TGFb_propeptide

Exome: 87.7% (AC=1231845, hom=545807)Genome: 73.7% (AC=111916, hom=45182)166 overlapping SVs

3 papers

chr1:39522412 G>A

NM_181809.4

p.R293H

c.878G>A

Exome: 51.4% (AC=598076, hom=174929)Genome: 44.5% (AC=60892, hom=13820)166 overlapping SVs

2 papers

chr1:39492324 G>A

NM_181809.4

p.M111I

c.333G>A

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a166 overlapping SVs

2 papers

chr1:39492324 G>C

NM_181809.4

p.M111I

c.333G>C

TGFb_propeptide

exact variant not in gnomAD166 overlapping SVs

2 papers

chr1:39492324 G>T

NM_181809.4

p.M111I

c.333G>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a166 overlapping SVs

2 papers

chr1:39511258 C>T

NM_181809.4

p.A140V

c.419C>T

TGFb_propeptide

Exome: 5.0% (AC=59230, hom=2390)Genome: 12.3% (AC=17521, hom=931)166 overlapping SVs

2 papers

chr1:39511805 G>A

NM_181809.4

p.E192K

c.574G>A

TGFb_propeptide

Exome: 0.1% (AC=905, hom=0)Genome: 0.0% (AC=56, hom=0)166 overlapping SVs

2 papers

chr1:39511903 C>T

NM_181809.4

p.D224D

c.672C>T

TGFb_propeptide

Exome: 68.2% (AC=620802, hom=168234)Genome: 64.6% (AC=66375, hom=15735)167 overlapping SVs

2 papers

chr1:39525737 GCAA>G

NM_181809.4

p.N385del1

c.1153_1154delAAC

TGF_beta

Exome: 0.2% (AC=3134, hom=3)Genome: 0.2% (AC=242, hom=1)167 overlapping SVs

2 papers

chr1:39525764 G>A

NM_181809.4

p.R392H

c.1175G>A

TGF_beta

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=15, hom=0)167 overlapping SVs

1 paper

chr1:39492031 A>G

NM_181809.4

p.T14A

c.40A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)166 overlapping SVs

1 paper

chr1:39492068 G>T

NM_181809.4

p.R26L

c.77G>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)166 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."