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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP8A

Variant:p.M111I

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

chr1:39492324 G>T

NM_181809.4

p.M111I

c.333G>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a166 overlapping SVs

Surrounding Variants

2 papers

chr1:39492324 G>A

NM_181809.4

p.M111I

c.333G>A

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a166 overlapping SVs

2 papers

chr1:39492324 G>C

NM_181809.4

p.M111I

c.333G>C

TGFb_propeptide

exact variant not in gnomAD166 overlapping SVs

1 paper

chr1:39492342 G>A

NM_181809.4

p.V112Splc

c.334+17G>A

Exome: 0.1% (AC=1037, hom=14)Genome: 0.1% (AC=165, hom=1)166 overlapping SVs

1 paper

chr1:39492292 C>T

NM_181809.4

p.R101C

c.301C>T

TGFb_propeptide

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)166 overlapping SVs

1 paper

chr1:39492281 A>G

NM_181809.4

p.Q97R

c.290A>G

TGFb_propeptide

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=3, hom=0)166 overlapping SVs

1 paper

chr1:39492274 G>A

NM_181809.4

p.A95T

c.283G>A

TGFb_propeptide

Exome: 0.1% (AC=1108, hom=8)Genome: 0.1% (AC=93, hom=0)166 overlapping SVs

1 paper

chr1:39492255 C>T

NM_181809.4

p.D88D

c.264C>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a166 overlapping SVs

7 papers

chr1:39492241 A>G

NM_181809.4

p.M84V

c.250A>G

TGFb_propeptide

Exome: 87.7% (AC=1231845, hom=545807)Genome: 73.7% (AC=111916, hom=45182)166 overlapping SVs

1 paper

chr1:39492203 C>T

NM_181809.4

p.A71V

c.212C>T

TGFb_propeptide

Exome: 0.0% (AC=2, hom=0)Genome: n/a166 overlapping SVs

1 paper

chr1:39492085 C>T

NM_181809.4

p.P32S

c.94C>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a166 overlapping SVs

1 paper

chr1:39492068 G>T

NM_181809.4

p.R26L

c.77G>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)166 overlapping SVs

1 paper

chr1:39492031 A>G

NM_181809.4

p.T14A

c.40A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)166 overlapping SVs

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