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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP6

BMP6

169 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 61–362UCSCTGF-beta propeptide

TGF_betaaa 411–512UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 6

HGNC Previous Symbol

VGR

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 134 variants

13 papers

chr6:7727242 T>C

NM_001718.6

p.L96P

c.287T>C

TGFb_propeptide

Exome: 0.6% (AC=8929, hom=39)Genome: 0.4% (AC=622, hom=0)28 overlapping SVs

10 papers

chr6:7727038 G>A

NM_001718.6

p.R28Q

c.83G>A

Exome: 46.2% (AC=455249, hom=106483)Genome: 36.8% (AC=54819, hom=10975)28 overlapping SVs

10 papers

chr6:7727292 C>G

NM_001718.6

p.Q113E

c.337C>G

TGFb_propeptide

Exome: 0.2% (AC=2807, hom=26)Genome: 1.0% (AC=1502, hom=17)28 overlapping SVs

10 papers

chr6:7845245 G>A

NM_001718.6

p.R257H

c.770G>A

TGFb_propeptide

Exome: 0.0% (AC=707, hom=3)Genome: 0.3% (AC=520, hom=4)29 overlapping SVs

7 papers

chr6:7727238 C>T

NM_001718.6

p.P95S

c.283C>T

TGFb_propeptide

Exome: 0.0% (AC=499, hom=1)Genome: 0.0% (AC=27, hom=0)28 overlapping SVs

5 papers

chr6:7727289 G>C

NM_001718.6

p.E112Q

c.334G>C

TGFb_propeptide

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=6, hom=0)28 overlapping SVs

5 papers

chr6:7862474 G>A

NM_001718.6

p.V394M

c.1180G>A

Exome: 0.1% (AC=1005, hom=1)Genome: 0.1% (AC=77, hom=0)28 overlapping SVs

4 papers

chr6:7880228 C>T

NM_001718.6

p.P476L

c.1427C>T

TGF_beta

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

3 papers

chr6:7727289 G>GAGC

NM_001718.6

p.Q118_L119ins0

c.353_355dupAGC

TGFb_propeptide

Exome: 1.9% (AC=27480, hom=640)Genome: 2.6% (AC=4024, hom=123)28 overlapping SVs

3 papers

chr6:7879174 T>C

NM_001718.6

p.Q427_D428Splc

c.1281+24T>C

Exome: 47.0% (AC=679700, hom=166186)Genome: 55.8% (AC=84788, hom=25156)28 overlapping SVs

2 papers

chr6:7727289 GAGC>G

NM_001718.6

p.E112_Q113del1

c.335_337delAGC

TGFb_propeptide

Exome: 0.0% (AC=300, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

2 papers

chr6:7727308 A>T

NM_001718.6

p.Q118L

c.353A>T

TGFb_propeptide

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=0, hom=0)28 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."