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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP6

Variant:p.Q80E

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

Selected Variant

1 paper

chr6:7727193 C>G

NM_001718.6

p.Q80E

c.238C>G

TGFb_propeptide

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

Surrounding Variants

1 paper

chr6:7727184 C>T

NM_001718.6

p.R77W

c.229C>T

TGFb_propeptide

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=3, hom=0)28 overlapping SVs

1 paper

chr6:7727170 A>G

NM_001718.6

p.K72R

c.215A>G

TGFb_propeptide

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

1 paper

chr6:7727219 G>C

NM_001718.6

p.G88G

c.264G>C

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr6:7727166 C>G

NM_001718.6

p.L71V

c.211C>G

TGFb_propeptide

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=18, hom=0)28 overlapping SVs

1 paper

chr6:7727232 C>T

NM_001718.6

p.P93S

c.277C>T

TGFb_propeptide

Exome: 0.0% (AC=130, hom=0)Genome: 0.0% (AC=17, hom=0)28 overlapping SVs

1 paper

chr6:7727235 C>T

NM_001718.6

p.R94W

c.280C>T

TGFb_propeptide

Exome: 0.0% (AC=165, hom=1)Genome: 0.0% (AC=10, hom=0)28 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

1 paper

chr6:7727239 C>T

NM_001718.6

p.P95L

c.284C>T

TGFb_propeptide

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

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

1 paper

chr6:7727136 C>T

NM_001718.6

p.Q61*

c.181C>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr6:7727265 C>T

NM_001718.6

p.P104S

c.310C>T

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr6:7727286 GAGGAGC>G

NM_001718.6

p.E112_Q113del2

c.334_338del6

TGFb_propeptide

exact variant not in gnomAD28 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."