Varaico: Literature-Extracted Genetic Variants

Gene:GDF9

GDF9

208 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 264–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 9

Papers
RefSeq ID
Protein change
DNA change
1–12 of 279 variants
24 papers
NM_005260.7
p.P103S
c.307C>T
20 papers
NM_005260.7
p.V216M
c.646G>A
19 papers
NM_005260.7
p.T149T
c.447C>T
18 papers
NM_005260.7
p.E182E
c.546G>A
15 papers
NM_005260.7
p.S186Y
c.557C>A
15 papers
NM_005260.7
p.R454C
c.1360C>T
14 papers
NM_005260.7
p.K67Q
c.199A>C
12 papers
NM_005260.7
p.S428T
c.1283G>C
11 papers
NM_005260.7
p.K67E
c.199A>G
10 papers
NM_005260.7
p.T238A
c.712A>G
10 papers
NM_005260.7
p.P374L
c.1121C>T
9 papers
NM_005260.7
p.R146C
c.436C>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."