Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.N5K

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
Selected Variant
1 paper
NM_005260.7
p.N5K
c.15C>G
Surrounding Variants
2 papers
NM_005260.7
p.N5H
c.13A>C
2 papers
NM_005260.7
p.P4H
c.11C>A
1 paper
NM_005260.7
p.R3L
c.8G>T
1 paper
NM_005260.7
p.L9F
c.25C>T
1 paper
NM_005260.7
p.M1I
c.3G>T
1 paper
NM_005260.7
p.M1I
c.3G>C
2 papers
NM_005260.7
p.M1I
c.3G>A
1 paper
NM_005260.7
p.N5_C12delFs
c.15_36del22
1 paper
NM_005260.7
p.C13W
c.39C>G
1 paper
NM_005260.7
p.A15_W16insFs
c.45_46insG
1 paper
NM_005260.7
p.W16*
c.47G>A
1 paper
NM_005260.7
p.W16*
c.48G>A
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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."