Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDF2

GDF2

164 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 52–257UCSCTGF-beta propeptide

TGF_betaaa 326–428UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 2

HGNC Alias Symbols

BMP-9; BMP9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 226 variants

10 papers

chr10:47322744 C>T

NM_016204.4

p.Q26*

c.76C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a27 overlapping SVs

10 papers

chr10:47322996 C>T

NM_016204.4

p.R110W

c.328C>T

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a27 overlapping SVs

10 papers

chr10:47325491 C>T

NM_016204.4

p.R333W

c.997C>T

TGF_beta

Exome: 0.0% (AC=168, hom=0)Genome: 0.1% (AC=174, hom=0)27 overlapping SVs

7 papers

chr10:47324945 C>T

NM_016204.4

p.R151*

c.451C>T

TGFb_propeptide

Exome: 0.0% (AC=5, hom=0)Genome: n/a27 overlapping SVs

6 papers

chr10:47322871 G>T

NM_016204.4

p.R68L

c.203G>T

TGFb_propeptide

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)27 overlapping SVs

6 papers

chr10:47322922 C>T

NM_016204.4

p.P85L

c.254C>T

TGFb_propeptide

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=3, hom=0)27 overlapping SVs

6 papers

chr10:47325146 G>A

NM_016204.4

p.D218N

c.652G>A

TGFb_propeptide

Exome: 0.2% (AC=2579, hom=26)Genome: 0.1% (AC=201, hom=1)27 overlapping SVs

6 papers

chr10:47325452 A>T

NM_016204.4

p.S320C

c.958A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a27 overlapping SVs

4 papers

chr10:47322933 A>G

NM_016204.4

p.M89V

c.265A>G

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a27 overlapping SVs

4 papers

chr10:47324846 A>T

NM_016204.4

p.I118F

c.352A>T

TGFb_propeptide

Exome: 0.0% (AC=431, hom=3)Genome: 0.1% (AC=83, hom=0)27 overlapping SVs

4 papers

chr10:47324921 G>A

NM_016204.4

p.E143K

c.427G>A

TGFb_propeptide

exact variant not in gnomAD27 overlapping SVs

4 papers

chr10:47325365 G>A

NM_016204.4

p.G291S

c.871G>A

Exome: 0.0% (AC=98, hom=1)Genome: 0.0% (AC=66, hom=1)27 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."