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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP8A

Variant:p.D224D

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

Selected Variant

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

Surrounding Variants

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

chr1:39511258 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

1 paper

chr1:39511193 G>A

NM_181809.4

p.L118L

c.354G>A

TGFb_propeptide

Exome: 0.0% (AC=191, hom=0)Genome: 0.0% (AC=25, hom=0)166 overlapping SVs

1 paper

chr1:39511179 C>T

NM_181809.4

p.R114*

c.340C>T

TGFb_propeptide

Exome: 0.0% (AC=217, hom=0)Genome: 0.0% (AC=37, hom=0)166 overlapping SVs

1 paper

chr1:39515255 C>T

NM_181809.4

p.G225Splc

c.673+3351C>T

Exome: 0.0% (AC=228, hom=2)Genome: 0.0% (AC=22, hom=0)167 overlapping SVs

1 paper

chr1:39515962 C>T

NM_181809.4

p.G225Splc

c.673+4058C>T

Exome: 0.1% (AC=1067, hom=70)Genome: 0.0% (AC=42, hom=0)167 overlapping SVs

1 paper

chr1:39521423 C>T

NM_181809.4

p.P241S

c.721C>T

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a167 overlapping SVs

1 paper

chr1:39521511 G>A

NM_181809.4

p.R270K

c.809G>A

Exome: 1.5% (AC=12056, hom=4688)Genome: 11.9% (AC=7694, hom=2612)167 overlapping SVs

1 paper

chr1:39521529 G>C

NM_181809.4

p.S276T

c.827G>C

Exome: 0.5% (AC=3696, hom=1264)Genome: 1.9% (AC=1195, hom=344)167 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."