Varaico: Literature-Extracted Genetic Variants

Gene:GDF1

GDF1

94 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 266–371UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
14 papers
NM_001492.6
p.C227*
c.681C>A
7 papers
NM_001492.6
p.M364T
c.1091T>C
6 papers
NM_001492.6
p.P303insFs
c.909dupC
5 papers
NM_001492.6
p.A118V
c.353C>T
5 papers
NM_001492.6
p.G162D
c.485G>A
4 papers
NM_001492.6
p.C267Y
c.800G>A
4 papers
NM_001492.6
p.A318T
c.952G>A
4 papers
NM_001492.6
p.F349_F350delFs
c.1047_1050del4
3 papers
NM_001492.6
p.R68H
c.203G>A
3 papers
NM_001492.6
p.A157delins
c.471delinsGGCA
3 papers
NM_001492.6
p.G262S
c.784G>A
3 papers
NM_001492.6
p.S309P
c.925T>C
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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."