Varaico: Literature-Extracted Genetic Variants

Gene:GDF3

GDF3

83 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

TGF_betaaa 263–363UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
10 papers
NM_020634.3
p.R266C
c.796C>T
8 papers
NM_020634.3
p.G213R
c.637G>C
8 papers
NM_020634.3
p.G213R
c.637G>A
6 papers
NM_020634.3
p.R274W
c.820C>T
6 papers
NM_020634.3
p.L305P
c.914T>C
5 papers
NM_020634.3
p.R195Q
c.584G>A
4 papers
NM_020634.3
p.S212L
c.635C>T
2 papers
NM_020634.3
p.V78L
c.232G>C
2 papers
NM_020634.3
p.R84C
c.250C>T
2 papers
NM_020634.3
p.R84L
c.251G>T
2 papers
NM_020634.3
p.A251T
c.751G>A
2 papers
NM_020634.3
p.P325L
c.974C>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."