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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP8B

BMP8B

71 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 8b

HGNC Previous Symbol

BMP8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 56 variants

8 papers

chr1:39764664 C>G

NM_001720.5

p.S276T

c.827G>C

Exome: 31.6% (AC=450438, hom=9986)Genome: 32.9% (AC=48151, hom=1508)167 overlapping SVs

5 papers

chr1:39764713 G>A

NM_001720.5

p.R260C

c.778C>T

Exome: 0.1% (AC=2042, hom=0)Genome: 0.1% (AC=194, hom=0)167 overlapping SVs

3 papers

chr1:39760462 C>T

NM_001720.5

p.R389H

c.1166G>A

TGF_beta

Exome: 1.7% (AC=24485, hom=261)Genome: 1.3% (AC=1969, hom=21)166 overlapping SVs

2 papers

chr1:39764809 C>T

NM_001720.5

p.V228M

c.682G>A

TGFb_propeptide

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=4, hom=0)167 overlapping SVs

2 papers

chr1:39763782 T>C

NM_001720.5

p.H293R

c.878A>G

Exome: 1.5% (AC=21155, hom=1125)Genome: 2.0% (AC=2846, hom=141)167 overlapping SVs

2 papers

chr1:39763747 C>T

NM_001720.5

p.E305K

c.913G>A

TGF_beta

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=6, hom=1)167 overlapping SVs

2 papers

chr1:39763721 G>A

NM_001720.5

p.L313L

c.939C>T

TGF_beta

Exome: 1.2% (AC=13765, hom=87)Genome: 2.2% (AC=2455, hom=4)167 overlapping SVs

2 papers

chr1:39763174 G>T

NM_001720.5

p.S326*

c.977C>A

TGF_beta

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=6, hom=0)167 overlapping SVs

2 papers

chr1:39763127 T>C

NM_001720.5

p.M342V

c.1024A>G

TGF_beta

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=53, hom=0)167 overlapping SVs

2 papers

chr1:39760430 C>T

NM_001720.5

p.G400S

c.1198G>A

TGF_beta

Exome: 0.1% (AC=1237, hom=0)Genome: 0.0% (AC=62, hom=0)166 overlapping SVs

1 paper

chr1:39788483 C>A

NM_001720.5

p.M1I

c.3G>T

Exome: 0.0% (AC=7, hom=0)Genome: n/a165 overlapping SVs

1 paper

chr1:39788423 G>A

NM_001720.5

p.G21G

c.63C>T

Exome: 0.0% (AC=267, hom=3)Genome: 0.4% (AC=634, hom=7)164 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."