Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.T121I

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
7 papers
NM_005260.7
p.T121I
c.362C>T
Surrounding Variants
1 paper
NM_005260.7
p.R122W
c.364C>T
2 papers
NM_005260.7
p.C120S
c.359G>C
1 paper
NM_005260.7
p.C120S
c.358T>A
1 paper
NM_005260.7
p.P119L
c.356C>T
1 paper
NM_005260.7
p.K124M
c.371A>T
1 paper
NM_005260.7
p.G128E
c.383G>A
3 papers
NM_005260.7
p.N112N
c.336C>T
1 paper
NM_005260.7
p.Q130R
c.389A>G
1 paper
NM_005260.7
p.Y111*
c.333C>G
1 paper
NM_005260.7
p.Y111*
c.333C>A
1 paper
NM_005260.7
p.V131A
c.392T>C
3 papers
NM_005260.7
p.V131_T132insFs
c.393_394insT
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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."