Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.T304M

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
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_016204.4
p.T304M
c.911C>T
Surrounding Variants
1 paper
NM_016204.4
p.E302V
c.905A>T
1 paper
NM_016204.4
p.G306D
c.917G>A
1 paper
NM_016204.4
p.S299T
c.896G>C
1 paper
NM_016204.4
p.E297K
c.889G>A
1 paper
NM_016204.4
p.E294fs
c.880_881fs
2 papers
NM_016204.4
p.R316G
c.946A>G
3 papers
NM_016204.4
p.R316S
c.948G>C
3 papers
NM_016204.4
p.R316S
c.948G>T
4 papers
NM_016204.4
p.R317Q
c.950G>A
4 papers
NM_016204.4
p.G291S
c.871G>A
1 paper
NM_016204.4
p.D290delFs
c.868delG
1 paper
NM_016204.4
p.K289*
c.865A>T
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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."