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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP4

BMP4

511 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 44–275UCSCTGF-beta propeptide

TGF_betaaa 307–407UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 4

HGNC Previous Symbol

BMP2B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 380 variants

50 papers

chr14:53950804 A>G

NM_001202.6

p.V152A

c.455T>C

TGFb_propeptide

Exome: 52.7% (AC=769729, hom=210649)Genome: 43.9% (AC=66834, hom=16493)16 overlapping SVs

19 papers

chr14:53950508 G>A

NM_001202.6

p.H251Y

c.751C>T

TGFb_propeptide

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=11, hom=0)16 overlapping SVs

16 papers

chr14:53950453 C>T

NM_001202.6

p.R269Q

c.806G>A

TGFb_propeptide

Exome: 0.0% (AC=105, hom=0)Genome: 0.0% (AC=17, hom=0)16 overlapping SVs

15 papers

chr14:53951951 G>C

NM_001202.6

p.S91C

c.272C>G

TGFb_propeptide

Exome: 0.0% (AC=380, hom=0)Genome: 0.0% (AC=25, hom=0)16 overlapping SVs

11 papers

chr14:53951945 T>C

NM_001202.6

p.E93G

c.278A>G

TGFb_propeptide

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

9 papers

chr14:53951861 T>C

NM_001202.6

p.H121R

c.362A>G

TGFb_propeptide

Exome: 0.0% (AC=177, hom=1)Genome: 0.0% (AC=22, hom=0)16 overlapping SVs

9 papers

chr14:53950809 G>C

NM_001202.6

p.N150K

c.450C>G

TGFb_propeptide

Exome: 0.0% (AC=27, hom=0)Genome: n/a16 overlapping SVs

9 papers

chr14:53950809 G>T

NM_001202.6

p.N150K

c.450C>A

TGFb_propeptide

exact variant not in gnomAD16 overlapping SVs

9 papers

chr14:53950774 C>T

NM_001202.6

p.R162Q

c.485G>A

TGFb_propeptide

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

9 papers

chr14:53950399 C>T

NM_001202.6

p.R287H

c.860G>A

Exome: 0.0% (AC=599, hom=2)Genome: 0.1% (AC=208, hom=0)16 overlapping SVs

8 papers

chr14:53950667 G>A

NM_001202.6

p.R198*

c.592C>T

TGFb_propeptide

exact variant not in gnomAD16 overlapping SVs

7 papers

chr14:53950843 C>T

NM_001202.6

p.R139H

c.416G>A

TGFb_propeptide

Exome: 0.0% (AC=127, hom=0)Genome: 0.0% (AC=10, hom=0)16 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."